{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,12]],"date-time":"2026-11-12T02:35:34Z","timestamp":1794450934025,"version":"4.9.1"},"reference-count":50,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2021,2,13]],"date-time":"2021-02-13T00:00:00Z","timestamp":1613174400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2021,2,13]],"date-time":"2021-02-13T00:00:00Z","timestamp":1613174400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"crossref","award":["ANR-10-IAHU-01"],"award-info":[{"award-number":["ANR-10-IAHU-01"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"crossref","award":["reference: ANR-17-RHUS-0002"],"award-info":[{"award-number":["reference: ANR-17-RHUS-0002"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pediatr Nephrol"],"published-print":{"date-parts":[[2021,8]]},"DOI":"10.1007\/s00467-021-04953-9","type":"journal-article","created":{"date-parts":[[2021,2,14]],"date-time":"2021-02-14T08:49:17Z","timestamp":1613292557000},"page":"2361-2369","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes"],"prefix":"10.1007","volume":"36","author":[{"given":"Guillaume","family":"Dorval","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9cile","family":"Jeanpierre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Morini\u00e8re","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carole","family":"Tournant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bettina","family":"Bessi\u00e8res","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tania","family":"Atti\u00e9-Bittach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeanne","family":"Amiel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuel","family":"Spaggari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yves","family":"Ville","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elodie","family":"Merieau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Claire","family":"Gubler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Saunier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1362-5515","authenticated-orcid":false,"given":"Laurence","family":"Heidet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,2,13]]},"reference":[{"key":"4953_CR1","doi-asserted-by":"publisher","unstructured":"Soares AR, Figueiredo CM, Quelhas D, Silva ES, Freitas J, Oliveira MJ, Faria S, Fortuna AM, Borges T (2020) Hyperinsulinaemic hypoglycaemia and polycystic kidney disease - a rare case concerning PMM2 gene pleiotropy. Eur Endocrinol 16:66\u201368. https:\/\/doi.org\/10.17925\/EE.2020.16.1.66","DOI":"10.17925\/EE.2020.16.1.66"},{"key":"4953_CR2","doi-asserted-by":"publisher","unstructured":"Moreno Maci\u00e1n F, De Mingo Alemany C, Le\u00f3n Cari\u00f1ena S, Ortega L\u00f3pez P, Rausell Felix D, Aparisi Navarro M, Martinez Matilla M, Cardona Gay C, Martinez Castellano F, Albiach Mesado V (2020) Mutations in PMM2 gene in four unrelated Spanish families with polycystic kidney disease and hyperinsulinemic hypoglycemia. J Pediatr Endocrinol Metab 33:1283\u20131288. https:\/\/doi.org\/10.1515\/jpem-2020-0168","DOI":"10.1515\/jpem-2020-0168"},{"key":"4953_CR3","doi-asserted-by":"publisher","unstructured":"Cabezas OR, Flanagan SE, Stanescu H, Garc\u00eda-Mart\u00ednez E, Caswell R, Lango-Allen H, Ant\u00f3n-Gamero M, Argente J, Bussell A-M, Brandli A, Cheshire C, Crowne E, Dumitriu S, Drynda R, Hamilton-Shield JP, Hayes W, Hofherr A, Iancu D, Issler N, Jefferies C, Jones P, Johnson M, Kesselheim A, Klootwijk E, Koettgen M, Lewis W, Martos JM, Mozere M, Norman J, Patel V, Parrish A, P\u00e9rez-Cerd\u00e1 C, Pozo J, Rahman SA, Sebire N, Tekman M, Turnpenny PD, Hoff WV, Viering DHHM, Weedon MN, Wilson P, Guay-Woodford L, Kleta R, Hussain K, Ellard S, Bockenhauer D (2017) Polycystic kidney disease with hyperinsulinemic hypoglycemia caused by a promoter mutation in phosphomannomutase 2. J Am Soc Nephrol 28:2529\u20132539. https:\/\/doi.org\/10.1681\/ASN.2016121312","DOI":"10.1681\/ASN.2016121312"},{"key":"4953_CR4","doi-asserted-by":"publisher","first-page":"2901","DOI":"10.1681\/ASN.2017010043","volume":"28","author":"L Heidet","year":"2017","unstructured":"Heidet L, Morini\u00e8re V, Henry C, De Tomasi L, Reilly ML, Humbert C, Alibeu O, Fourrage C, Bole-Feysot C, Nitschk\u00e9 P, Tores F, Bras M, Jeanpierre M, Pietrement C, Gaillard D, Gonzales M, Novo R, Schaefer E, Roume J, Martinovic J, Malan V, Salomon R, Saunier S, Antignac C, Jeanpierre C (2017) Targeted exome sequencing identifies PBX1 as involved in monogenic congenital anomalies of the kidney and urinary tract. J Am Soc Nephrol 28:2901\u20132914. https:\/\/doi.org\/10.1681\/ASN.2017010043","journal-title":"J Am Soc Nephrol"},{"key":"4953_CR5","doi-asserted-by":"publisher","first-page":"386","DOI":"10.1002\/1098-1004(200011)16:5<386::AID-HUMU2>3.0.CO;2-Y","volume":"16","author":"G Matthijs","year":"2000","unstructured":"Matthijs G, Schollen E, Bjursell C, Erlandson A, Freeze H, Imtiaz F, Kjaergaard S, Martinsson T, Schwartz M, Seta N, Vuillaumier-Barrot S, Westphal V, Winchester B (2000) Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia). Hum Mutat 16:386\u2013394. https:\/\/doi.org\/10.1002\/1098-1004(200011)16:5<386::AID-HUMU2>3.0.CO;2-Y","journal-title":"Hum Mutat"},{"key":"4953_CR6","doi-asserted-by":"publisher","first-page":"2103","DOI":"10.1002\/ajmg.a.32446","volume":"146A","author":"R Barone","year":"2008","unstructured":"Barone R, Sturiale L, Sofia V, Ignoto A, Fiumara A, Sorge G, Garozzo D, Zappia M (2008) Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia. Am J Med Genet A 146A:2103\u20132108. https:\/\/doi.org\/10.1002\/ajmg.a.32446","journal-title":"Am J Med Genet A"},{"key":"4953_CR7","doi-asserted-by":"publisher","first-page":"400","DOI":"10.1067\/mpd.2000.103503","volume":"136","author":"CH van Ommen","year":"2000","unstructured":"van Ommen CH, Peters M, Barth PG, Vreken P, Wanders RJ, Jaeken J (2000) Carbohydrate-deficient glycoprotein syndrome type 1a: a variant phenotype with borderline cognitive dysfunction, cerebellar hypoplasia, and coagulation disturbances. J Pediatr 136:400\u2013403. https:\/\/doi.org\/10.1067\/mpd.2000.103503","journal-title":"J Pediatr"},{"key":"4953_CR8","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1053\/ejpn.2001.0483","volume":"5","author":"P Briones","year":"2001","unstructured":"Briones P, Vilaseca MA, Garc\u00eda-Silva MT, Pineda M, Colomer J, Ferrer I, Artigas J, Jaeken J, Chab\u00e1s A (2001) Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease. Eur J Paediatr Neurol 5:127\u2013131. https:\/\/doi.org\/10.1053\/ejpn.2001.0483","journal-title":"Eur J Paediatr Neurol"},{"key":"4953_CR9","doi-asserted-by":"publisher","first-page":"791","DOI":"10.1016\/s0300-9084(01)01292-5","volume":"83","author":"HH Freeze","year":"2001","unstructured":"Freeze HH, Westphal V (2001) Balancing N-linked glycosylation to avoid disease. Biochimie 83:791\u2013799. https:\/\/doi.org\/10.1016\/s0300-9084(01)01292-5","journal-title":"Biochimie"},{"key":"4953_CR10","doi-asserted-by":"publisher","first-page":"236","DOI":"10.1136\/adc.85.3.236","volume":"85","author":"S Kjaergaard","year":"2001","unstructured":"Kjaergaard S, Schwartz M, Skovby F (2001) Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H\/F119L genotype. Arch Dis Child 85:236\u2013239. https:\/\/doi.org\/10.1136\/adc.85.3.236","journal-title":"Arch Dis Child"},{"key":"4953_CR11","doi-asserted-by":"publisher","first-page":"337","DOI":"10.1016\/j.ymgme.2005.10.015","volume":"87","author":"S Vuillaumier-Barrot","year":"2006","unstructured":"Vuillaumier-Barrot S, Le Bizec C, De Lonlay P, Madinier-Chappat N, Barnier A, Dupr\u00e9 T, Durand G, Seta N (2006) PMM2 intronic branch-site mutations in CDG-Ia. Mol Genet Metab 87:337\u2013340. https:\/\/doi.org\/10.1016\/j.ymgme.2005.10.015","journal-title":"Mol Genet Metab"},{"key":"4953_CR12","doi-asserted-by":"publisher","first-page":"287","DOI":"10.1136\/jmg.2008.057620","volume":"46","author":"S Romano","year":"2009","unstructured":"Romano S, Bajolle F, Valayannopoulos V, Lyonnet S, Colomb V, de Barac\u00e9 C, Vouhe P, Pouard P, Vuillaumier-Barrot S, Dupr\u00e9 T, de Keyzer Y, Sidi D, Seta N, Bonnet D, de Lonlay P (2009) Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia). J Med Genet 46:287\u2013288. https:\/\/doi.org\/10.1136\/jmg.2008.057620","journal-title":"J Med Genet"},{"issue":"Suppl 1","key":"4953_CR13","doi-asserted-by":"publisher","first-page":"S41","DOI":"10.1007\/s10545-009-1031-1","volume":"32","author":"MK Thong","year":"2009","unstructured":"Thong MK, Fietz M, Nicholls C, Lee MH, Asma O (2009) Congenital disorder of glycosylation type Ia in a Malaysian family: clinical outcome and description of a novel PMM2 mutation. J Inherit Metab Dis 32(Suppl 1):S41\u2013S44. https:\/\/doi.org\/10.1007\/s10545-009-1031-1","journal-title":"J Inherit Metab Dis"},{"key":"4953_CR14","doi-asserted-by":"publisher","first-page":"65ra4","DOI":"10.1126\/scitranslmed.3001756","volume":"3","author":"CJ Bell","year":"2011","unstructured":"Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Ganusova EE, Mudge J, Langley RJ, Zhang L, Lee CC, Schilkey FD, Sheth V, Woodward JE, Peckham HE, Schroth GP, Kim RW, Kingsmore SF (2011) Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med 3:65ra4. https:\/\/doi.org\/10.1126\/scitranslmed.3001756","journal-title":"Sci Transl Med"},{"key":"4953_CR15","doi-asserted-by":"publisher","first-page":"929","DOI":"10.1007\/s10545-011-9328-2","volume":"34","author":"AI Vega","year":"2011","unstructured":"Vega AI, P\u00e9rez-Cerd\u00e1 C, Abia D, G\u00e1mez A, Briones P, Artuch R, Desviat LR, Ugarte M, P\u00e9rez B (2011) Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations. J Inherit Metab Dis 34:929\u2013939. https:\/\/doi.org\/10.1007\/s10545-011-9328-2","journal-title":"J Inherit Metab Dis"},{"key":"4953_CR16","doi-asserted-by":"publisher","first-page":"506","DOI":"10.1016\/j.gene.2013.07.083","volume":"531","author":"B Bortot","year":"2013","unstructured":"Bortot B, Cosentini D, Faletra F, Biffi S, De Martino E, Carrozzi M, Severini GM (2013) PMM2-CDG: phenotype and genotype in four affected family members. Gene 531:506\u2013509. https:\/\/doi.org\/10.1016\/j.gene.2013.07.083","journal-title":"Gene"},{"key":"4953_CR17","doi-asserted-by":"publisher","first-page":"178","DOI":"10.1038\/gim.2012.114","volume":"15","author":"GA Lazarin","year":"2013","unstructured":"Lazarin GA, Haque IS, Nazareth S, Iori K, Patterson AS, Jacobson JL, Marshall JR, Seltzer WK, Patrizio P, Evans EA, Srinivasan BS (2013) An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. Genet Med 15:178\u2013186. https:\/\/doi.org\/10.1038\/gim.2012.114","journal-title":"Genet Med"},{"key":"4953_CR18","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1016\/j.yebeh.2014.06.018","volume":"37","author":"MA Ream","year":"2014","unstructured":"Ream MA, Mikati MA (2014) Clinical utility of genetic testing in pediatric drug-resistant epilepsy: a pilot study. Epilepsy Behav 37:241\u2013248. https:\/\/doi.org\/10.1016\/j.yebeh.2014.06.018","journal-title":"Epilepsy Behav"},{"key":"4953_CR19","doi-asserted-by":"publisher","first-page":"546","DOI":"10.3171\/2014.7.PEDS14102","volume":"14","author":"H Stefanits","year":"2014","unstructured":"Stefanits H, Konstantopoulou V, Kuess M, Milenkovic I, Matula C (2014) Initial diagnosis of the congenital disorder of glycosylation PMM2-CDG (CDG1a) in a 4-year-old girl after neurosurgical intervention for cerebral hemorrhage. J Neurosurg Pediatr 14:546\u2013549. https:\/\/doi.org\/10.3171\/2014.7.PEDS14102","journal-title":"J Neurosurg Pediatr"},{"key":"4953_CR20","doi-asserted-by":"publisher","first-page":"e0139882","DOI":"10.1371\/journal.pone.0139882","volume":"10","author":"G Andreotti","year":"2015","unstructured":"Andreotti G, Monti MC, Citro V, Cubellis MV (2015) Heterodimerization of two pathological mutants enhances the activity of human phosphomannomutase2. PLoS One 10:e0139882. https:\/\/doi.org\/10.1371\/journal.pone.0139882","journal-title":"PLoS One"},{"key":"4953_CR21","doi-asserted-by":"publisher","first-page":"851","DOI":"10.1002\/humu.22817","volume":"36","author":"P Yuste-Checa","year":"2015","unstructured":"Yuste-Checa P, G\u00e1mez A, Brasil S, Desviat LR, Ugarte M, P\u00e9rez-Cerd\u00e1 C, P\u00e9rez B (2015) The effects of PMM2-CDG-causing mutations on the folding, activity, and stability of the PMM2 protein. Hum Mutat 36:851\u2013860. https:\/\/doi.org\/10.1002\/humu.22817","journal-title":"Hum Mutat"},{"key":"4953_CR22","doi-asserted-by":"publisher","first-page":"2182","DOI":"10.1093\/hmg\/ddw085","volume":"25","author":"B Chan","year":"2016","unstructured":"Chan B, Clasquin M, Smolen GA, Histen G, Powe J, Chen Y, Lin Z, Lu C, Liu Y, Cang Y, Yan Z, Xia Y, Thompson R, Singleton C, Dorsch M, Silverman L, Su S-SM, Freeze HH, Jin S (2016) A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2. Hum Mol Genet 25:2182\u20132193. https:\/\/doi.org\/10.1093\/hmg\/ddw085","journal-title":"Hum Mol Genet"},{"key":"4953_CR23","doi-asserted-by":"publisher","first-page":"52","DOI":"10.1016\/j.jns.2017.04.037","volume":"378","author":"M Rossi","year":"2017","unstructured":"Rossi M, Medina Escobar A, Ameghino L, Merello M (2017) Expanding the phenotype of phosphomannomutase-2 gene congenital disorder of glycosylation: cervical dystonia. J Neurol Sci 378:52\u201354. https:\/\/doi.org\/10.1016\/j.jns.2017.04.037","journal-title":"J Neurol Sci"},{"key":"4953_CR24","doi-asserted-by":"publisher","first-page":"1620","DOI":"10.1002\/ajmg.a.38235","volume":"173","author":"M-A Vals","year":"2017","unstructured":"Vals M-A, Morava E, Tee\u00e4\u00e4r K, Zordania R, Pajusalu S, Lefeber DJ, \u00d5unap K (2017) Three families with mild PMM2-CDG and normal cognitive development. Am J Med Genet A 173:1620\u20131624. https:\/\/doi.org\/10.1002\/ajmg.a.38235","journal-title":"Am J Med Genet A"},{"key":"4953_CR25","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1111\/ahg.12220","volume":"82","author":"F Bastaki","year":"2018","unstructured":"Bastaki F, Bizzari S, Hamici S, Nair P, Mohamed M, Saif F, Malik EM, Al-Ali MT, Hamzeh AR (2018) Single-center experience of N-linked congenital disorders of glycosylation with a summary of molecularly characterized cases in Arabs. Ann Hum Genet 82:35\u201347. https:\/\/doi.org\/10.1111\/ahg.12220","journal-title":"Ann Hum Genet"},{"key":"4953_CR26","doi-asserted-by":"publisher","first-page":"a003178","DOI":"10.1101\/mcs.a003178","volume":"4","author":"S Rego","year":"2018","unstructured":"Rego S, Dagan-Rosenfeld O, Zhou W, Sailani MR, Limcaoco P, Colbert E, Avina M, Wheeler J, Craig C, Salins D, R\u00f6st HL, Dunn J, McLaughlin T, Steinmetz LM, Bernstein JA, Snyder MP (2018) High-frequency actionable pathogenic exome variants in an average-risk cohort. Cold Spring Harb Mol Case Stud 4:a003178. https:\/\/doi.org\/10.1101\/mcs.a003178","journal-title":"Cold Spring Harb Mol Case Stud"},{"key":"4953_CR27","doi-asserted-by":"publisher","first-page":"606","DOI":"10.1016\/j.ajhg.2019.07.019","volume":"105","author":"KA Aldinger","year":"2019","unstructured":"Aldinger KA, Timms AE, Thomson Z, Mirzaa GM, Bennett JT, Rosenberg AB, Roco CM, Hirano M, Abidi F, Haldipur P, Cheng CV, Collins S, Park K, Zeiger J, Overmann LM, Alkuraya FS, Biesecker LG, Braddock SR, Cathey S, Cho MT, Chung BHY, Everman DB, Zarate YA, Jones JR, Schwartz CE, Goldstein A, Hopkin RJ, Krantz ID, Ladda RL, Leppig KA, McGillivray BC, Sell S, Wusik K, Gleeson JG, Nickerson DA, Bamshad MJ, Gerrelli D, Lisgo SN, Seelig G, Ishak GE, Barkovich AJ, Curry CJ, Glass IA, Millen KJ, Doherty D, Dobyns WB (2019) Redefining the etiologic landscape of cerebellar malformations. Am J Hum Genet 105:606\u2013615. https:\/\/doi.org\/10.1016\/j.ajhg.2019.07.019","journal-title":"Am J Hum Genet"},{"key":"4953_CR28","doi-asserted-by":"publisher","first-page":"76","DOI":"10.1016\/j.ajhg.2018.11.016","volume":"104","author":"O Ceyhan-Birsoy","year":"2019","unstructured":"Ceyhan-Birsoy O, Murry JB, Machini K, Lebo MS, Yu TW, Fayer S, Genetti CA, Schwartz TS, Agrawal PB, Parad RB, Holm IA, McGuire AL, Green RC, Rehm HL, Beggs AH, BabySeq Project Team (2019) Interpretation of genomic sequencing results in healthy and Ill newborns: results from the BabySeq Project. Am J Hum Genet 104:76\u201393. https:\/\/doi.org\/10.1016\/j.ajhg.2018.11.016","journal-title":"Am J Hum Genet"},{"key":"4953_CR29","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1016\/j.thromres.2019.04.010","volume":"178","author":"B Lefr\u00e8re","year":"2019","unstructured":"Lefr\u00e8re B, Stepanian A, Charles P, Foulon-Pinto G, B\u00e9ranger N, Alhenc-Gelas M, Drouet L, Siguret V (2019) Multifactorial hypercoagulable state associated with a thrombotic phenotype in phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG): case report and brief review of the literature. Thromb Res 178:75\u201378. https:\/\/doi.org\/10.1016\/j.thromres.2019.04.010","journal-title":"Thromb Res"},{"key":"4953_CR30","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1136\/jmedgenet-2019-106102","volume":"57","author":"M Chong","year":"2020","unstructured":"Chong M, Yoon G, Susan-Resiga D, Chamberland A, Cheillan D, Par\u00e9 G, Seidah NG (2020) Hypolipidaemia among patients with PMM2-CDG is associated with low circulating PCSK9 levels: a case report followed by observational and experimental studies. J Med Genet 57:11\u201317. https:\/\/doi.org\/10.1136\/jmedgenet-2019-106102","journal-title":"J Med Genet"},{"key":"4953_CR31","doi-asserted-by":"publisher","first-page":"443","DOI":"10.1007\/s10815-019-01675-8","volume":"37","author":"T Peng","year":"2020","unstructured":"Peng T, Lv C, Tan H, Huang J, He H, Wang Y, Zeng M, Yi D, Li J, Deng H, Shi X, Xiao H (2020) Novel PMM2 missense mutation in a Chinese family with non-syndromic premature ovarian insufficiency. J Assist Reprod Genet 37:443\u2013450. https:\/\/doi.org\/10.1007\/s10815-019-01675-8","journal-title":"J Assist Reprod Genet"},{"key":"4953_CR32","doi-asserted-by":"publisher","first-page":"305","DOI":"10.1111\/cge.13657","volume":"97","author":"Z Powis","year":"2020","unstructured":"Powis Z, Towne MC, Hagman KDF, Blanco K, Palmaer E, Castro A, Sajan SA, Radtke K, Feyma TJ, Juliette K, Tang S, Sidiropoulos C (2020) Clinical diagnostic exome sequencing in dystonia: genetic testing challenges for complex conditions. Clin Genet 97:305\u2013311. https:\/\/doi.org\/10.1111\/cge.13657","journal-title":"Clin Genet"},{"key":"4953_CR33","doi-asserted-by":"publisher","first-page":"705","DOI":"10.1002\/ajmg.a.61488","volume":"182","author":"Y Y\u0131ld\u0131z","year":"2020","unstructured":"Y\u0131ld\u0131z Y, Arslan M, \u00c7elik G, Kasapkara \u00c7S, Ceylaner S, Dursun A, Sivri HS, Co\u015fkun T, Tokatl\u0131 A (2020) Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe. Am J Med Genet A 182:705\u2013712. https:\/\/doi.org\/10.1002\/ajmg.a.61488","journal-title":"Am J Med Genet A"},{"key":"4953_CR34","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1007\/s00431-004-1611-x","volume":"164","author":"V Noelle","year":"2005","unstructured":"Noelle V, Knuepfer M, Pulzer F, Schuster V, Siekmeyer W, Matthijs G, Vogtmann C (2005) Unusual presentation of congenital disorder of glycosylation type 1a: congenital persistent thrombocytopenia, hypertrophic cardiomyopathy and hydrops-like aspect due to marked peripheral oedema. Eur J Pediatr 164:223\u2013226. https:\/\/doi.org\/10.1007\/s00431-004-1611-x","journal-title":"Eur J Pediatr"},{"key":"4953_CR35","doi-asserted-by":"publisher","first-page":"557","DOI":"10.1007\/s12311-011-0313-y","volume":"11","author":"M Casado","year":"2012","unstructured":"Casado M, O\u2019Callaghan MM, Montero R, P\u00e9rez-Cerda C, P\u00e9rez B, Briones P, Quintana E, Muchart J, Aracil A, Pineda M, Artuch R (2012) Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia). Cerebellum 11:557\u2013563. https:\/\/doi.org\/10.1007\/s12311-011-0313-y","journal-title":"Cerebellum"},{"key":"4953_CR36","doi-asserted-by":"publisher","first-page":"bcr2013010037","DOI":"10.1136\/bcr-2013-010037","volume":"2014","author":"C Resende","year":"2014","unstructured":"Resende C, Carvalho C, Alegria A, Oliveira D, Quelhas D, Bandeira A, Proen\u00e7a E (2014) Congenital disorders of glycosylation with neonatal presentation. BMJ Case Rep 2014:bcr2013010037. https:\/\/doi.org\/10.1136\/bcr-2013-010037","journal-title":"BMJ Case Rep"},{"key":"4953_CR37","doi-asserted-by":"publisher","first-page":"591","DOI":"10.1001\/jamaneurol.2017.5121","volume":"75","author":"M Coutelier","year":"2018","unstructured":"Coutelier M, Hammer MB, Stevanin G, Monin M-L, Davoine C-S, Mochel F, Labauge P, Ewenczyk C, Ding J, Gibbs JR, Hannequin D, Melki J, Toutain A, Laugel V, Forlani S, Charles P, Broussolle E, Thobois S, Afenjar A, Anheim M, Calvas P, Castelnovo G, de Broucker T, Vidailhet M, Moulignier A, Ghnassia RT, Tallaksen C, Mignot C, Goizet C, Le Ber I, Ollagnon-Roman E, Pouget J, Brice A, Singleton A, Durr A, Paraplegia S, Network A (2018) Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes. JAMA Neurol 75:591\u2013599. https:\/\/doi.org\/10.1001\/jamaneurol.2017.5121","journal-title":"JAMA Neurol"},{"key":"4953_CR38","doi-asserted-by":"publisher","first-page":"843","DOI":"10.1136\/jmedgenet-2017-104903","volume":"54","author":"M Schiff","year":"2017","unstructured":"Schiff M, Roda C, Monin M-L, Arion A, Barth M, Bednarek N, Bidet M, Bloch C, Boddaert N, Borgel D, Brassier A, Brice A, Bruneel A, Buissonni\u00e8re R, Chabrol B, Chevalier M-C, Cormier-Daire V, De Barace C, De Maistre E, De Saint-Martin A, Dorison N, Drouin-Garraud V, Dupr\u00e9 T, Echenne B, Edery P, Feillet F, Fontan I, Francannet C, Labarthe F, Gitiaux C, H\u00e9ron D, Hully M, Lamoureux S, Martin-Coignard D, Mignot C, Morin G, Pascreau T, Pincemaille O, Polak M, Roubertie A, Thauvin-Robinet C, Toutain A, Viot G, Vuillaumier-Barrot S, Seta N, De Lonlay P (2017) Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature. J Med Genet 54:843\u2013851. https:\/\/doi.org\/10.1136\/jmedgenet-2017-104903","journal-title":"J Med Genet"},{"key":"4953_CR39","doi-asserted-by":"publisher","first-page":"326","DOI":"10.1002\/ajmg.c.30229","volume":"151C","author":"MA Parisi","year":"2009","unstructured":"Parisi MA (2009) Clinical and molecular features of Joubert syndrome and related disorders. Am J Med Genet C: Semin Med Genet 151C:326\u2013340. https:\/\/doi.org\/10.1002\/ajmg.c.30229","journal-title":"Am J Med Genet C: Semin Med Genet"},{"key":"4953_CR40","doi-asserted-by":"publisher","first-page":"E1319","DOI":"10.1002\/humu.21239","volume":"31","author":"M Iannicelli","year":"2010","unstructured":"Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, Travaglini L, Gomes C, Ardissino GL, Bertini E, Boltshauser E, Castorina P, D\u2019Arrigo S, Fischetto R, Leroy B, Loget P, Bonni\u00e8re M, Starck L, Tantau J, Gentilin B, Majore S, Swistun D, Flori E, Lalatta F, Pantaleoni C, Penzien J, Grammatico P, International JSRD Study Group, Dallapiccola B, Gleeson JG, Attie-Bitach T, Valente EM (2010) Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. Hum Mutat 31:E1319\u2013E1331. https:\/\/doi.org\/10.1002\/humu.21239","journal-title":"Hum Mutat"},{"key":"4953_CR41","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1136\/jmg.2009.067249","volume":"47","author":"D Doherty","year":"2010","unstructured":"Doherty D, Parisi MA, Finn LS, Gunay-Aygun M, Al-Mateen M, Bates D, Clericuzio C, Demir H, Dorschner M, van Essen AJ, Gahl WA, Gentile M, Gorden NT, Hikida A, Knutzen D, Ozyurek H, Phelps I, Rosenthal P, Verloes A, Weigand H, Chance PF, Dobyns WB, Glass IA (2010) Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). J Med Genet 47:8\u201321. https:\/\/doi.org\/10.1136\/jmg.2009.067249","journal-title":"J Med Genet"},{"key":"4953_CR42","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1186\/s13023-015-0289-7","volume":"10","author":"M H\u00f6ck","year":"2015","unstructured":"H\u00f6ck M, Wegleiter K, Ralser E, Kiechl-Kohlendorfer U, Scholl-B\u00fcrgi S, Fauth C, Steichen E, Pichler K, Lefeber DJ, Matthjis G, Keldermans L, Maurer K, Zschocke J, Karall D (2015) ALG8-CDG: novel patients and review of the literature. Orphanet J Rare Dis 10:73. https:\/\/doi.org\/10.1186\/s13023-015-0289-7","journal-title":"Orphanet J Rare Dis"},{"key":"4953_CR43","doi-asserted-by":"publisher","first-page":"198","DOI":"10.1038\/ejhg.2015.91","volume":"24","author":"E Tham","year":"2016","unstructured":"Tham E, Eklund EA, Hammarsj\u00f6 A, Bengtson P, Geiberger S, Lagerstedt-Robinson K, Malmgren H, Nilsson D, Grigelionis G, Conner P, Lindgren P, Lindstrand A, Wedell A, Alb\u00e5ge M, Zielinska K, Nordgren A, Papadogiannakis N, Nishimura G, Grigelioniene G (2016) A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9. Eur J Hum Genet 24:198\u2013207. https:\/\/doi.org\/10.1038\/ejhg.2015.91","journal-title":"Eur J Hum Genet"},{"key":"4953_CR44","doi-asserted-by":"publisher","first-page":"657","DOI":"10.1007\/s10545-017-0066-y","volume":"40","author":"D Marques-da-Silva","year":"2017","unstructured":"Marques-da-Silva D, Francisco R, Webster D, Dos Reis Ferreira V, Jaeken J, Pulinilkunnil T (2017) Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature. J Inherit Metab Dis 40:657\u2013672. https:\/\/doi.org\/10.1007\/s10545-017-0066-y","journal-title":"J Inherit Metab Dis"},{"key":"4953_CR45","doi-asserted-by":"publisher","first-page":"456","DOI":"10.1038\/nature12723","volume":"504","author":"MT Boskovski","year":"2013","unstructured":"Boskovski MT, Yuan S, Pedersen NB, Goth CK, Makova S, Clausen H, Brueckner M, Khokha MK (2013) The heterotaxy gene GALNT11 glycosylates Notch to orchestrate cilia type and laterality. Nature 504:456\u2013459. https:\/\/doi.org\/10.1038\/nature12723","journal-title":"Nature"},{"key":"4953_CR46","doi-asserted-by":"publisher","first-page":"1507","DOI":"10.1681\/ASN.2013070767","volume":"24","author":"A Hofherr","year":"2013","unstructured":"Hofherr A, K\u00f6ttgen M (2013) Induced pluripotent stem cells from polycystic kidney disease patients: a novel tool to model the pathogenesis of cystic kidney disease. J Am Soc Nephrol 24:1507\u20131509. https:\/\/doi.org\/10.1681\/ASN.2013070767","journal-title":"J Am Soc Nephrol"},{"key":"4953_CR47","doi-asserted-by":"publisher","first-page":"109630","DOI":"10.1016\/j.cellsig.2020.109630","volume":"72","author":"J Hu","year":"2020","unstructured":"Hu J, Harris PC (2020) Regulation of polycystin expression, maturation and trafficking. Cell Signal 72:109630. https:\/\/doi.org\/10.1016\/j.cellsig.2020.109630","journal-title":"Cell Signal"},{"key":"4953_CR48","doi-asserted-by":"publisher","first-page":"2789","DOI":"10.1681\/ASN.2013060614","volume":"25","author":"Y Inoue","year":"2014","unstructured":"Inoue Y, Sohara E, Kobayashi K, Chiga M, Rai T, Ishibashi K, Horie S, Su X, Zhou J, Sasaki S, Uchida S (2014) Aberrant glycosylation and localization of polycystin-1 cause polycystic kidney in an AQP11 knockout model. J Am Soc Nephrol 25:2789\u20132799. https:\/\/doi.org\/10.1681\/ASN.2013060614","journal-title":"J Am Soc Nephrol"},{"key":"4953_CR49","doi-asserted-by":"publisher","first-page":"2091","DOI":"10.1681\/ASN.2019030298","volume":"30","author":"W Besse","year":"2019","unstructured":"Besse W, Chang AR, Luo JZ, Triffo WJ, Moore BS, Gulati A, Hartzel DN, Mane S, Regeneron Genetics Center, Torres VE, Somlo S, Mirshahi T (2019) ALG9 mutation carriers develop kidney and liver cysts. J Am Soc Nephrol 30:2091\u20132102. https:\/\/doi.org\/10.1681\/ASN.2019030298","journal-title":"J Am Soc Nephrol"},{"key":"4953_CR50","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1186\/s13630-017-0048-6","volume":"6","author":"MS Kane","year":"2017","unstructured":"Kane MS, Davids M, Bond MR, Adams CJ, Grout ME, Phelps IG, O\u2019Day DR, Dempsey JC, Li X, Golas G, Vezina G, Gunay-Aygun M, Hanover JA, Doherty D, He M, Malicdan MCV, Gahl WA, Boerkoel CF (2017) Abnormal glycosylation in Joubert syndrome type 10. Cilia 6:2. https:\/\/doi.org\/10.1186\/s13630-017-0048-6","journal-title":"Cilia"}],"container-title":["Pediatric Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-021-04953-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00467-021-04953-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-021-04953-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,7,6]],"date-time":"2021-07-06T09:43:07Z","timestamp":1625564587000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00467-021-04953-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,2,13]]},"references-count":50,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2021,8]]}},"alternative-id":["4953"],"URL":"https:\/\/doi.org\/10.1007\/s00467-021-04953-9","relation":{},"ISSN":["0931-041X","1432-198X"],"issn-type":[{"value":"0931-041X","type":"print"},{"value":"1432-198X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,2,13]]},"assertion":[{"value":"23 November 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 December 2020","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 January 2021","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 February 2021","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}