{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T15:45:56Z","timestamp":1787931956260,"version":"build-2784847793"},"reference-count":41,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,3,11]],"date-time":"2024-03-11T00:00:00Z","timestamp":1710115200000},"content-version":"vor","delay-in-days":70,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100023447","name":"CHU Sainte-Justine Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100023447","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000156","name":"Fonds de recherche du Qu\u00e9bec Sant\u00e9","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000156","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["gimopen.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Genetics in Medicine Open"],"published-print":{"date-parts":[[2024]]},"DOI":"10.1016\/j.gimo.2024.101837","type":"journal-article","created":{"date-parts":[[2024,3,13]],"date-time":"2024-03-13T03:25:20Z","timestamp":1710300320000},"page":"101837","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"special_numbering":"C","title":["Exploring the phenotypic spectrum and osteopenia mechanisms in Yunis-Var\u00f3n syndrome"],"prefix":"10.1016","volume":"2","author":[{"given":"\u00c9liane","family":"Beauregard-Lacroix","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Scott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thi Tuyet Mai","family":"Nguyen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klaas J.","family":"Wierenga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriela","family":"Purcarin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne B.","family":"Karstensen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel R.","family":"Carvalho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Luc","family":"Alessandri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9rique","family":"Payet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katta M.","family":"Girisha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathieu","family":"Ferron","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9713-7107","authenticated-orcid":false,"given":"Philippe M.","family":"Campeau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"10","key":"10.1016\/j.gimo.2024.101837_bib1","doi-asserted-by":"crossref","first-page":"4273","DOI":"10.1091\/mbc.e08-04-0405","article-title":"Assembly of a Fab1 phosphoinositide kinase signaling complex requires the Fig4 phosphoinositide phosphatase","volume":"19","author":"Botelho","year":"2008","journal-title":"Mol Biol Cell"},{"issue":"24","key":"10.1016\/j.gimo.2024.101837_bib2","doi-asserted-by":"crossref","first-page":"3221","DOI":"10.1038\/emboj.2008.248","article-title":"VAC14 nucleates a protein complex essential for the acute interconversion of PI3P and PI(3,5)P(2) in yeast and mouse","volume":"27","author":"Jin","year":"2008","journal-title":"EMBO J"},{"issue":"33","key":"10.1016\/j.gimo.2024.101837_bib3","doi-asserted-by":"crossref","first-page":"23878","DOI":"10.1074\/jbc.M611678200","article-title":"Core protein machinery for mammalian phosphatidylinositol 3,5-bisphosphate synthesis and turnover that regulates the progression of endosomal transport. Novel Sac phosphatase joins the ArPIKfyve-PIKfyve complex","volume":"282","author":"Sbrissa","year":"2007","journal-title":"J\u00a0Biol Chem"},{"issue":"17","key":"10.1016\/j.gimo.2024.101837_bib4","doi-asserted-by":"crossref","first-page":"1835","DOI":"10.1091\/mbc.E18-09-0556","article-title":"Roles for a lipid phosphatase in the activation of its opposing lipid kinase","volume":"31","author":"Strunk","year":"2020","journal-title":"Mol Biol Cell"},{"issue":"12","key":"10.1016\/j.gimo.2024.101837_bib5","doi-asserted-by":"crossref","first-page":"859","DOI":"10.1002\/acn3.487","article-title":"Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of VAC14","volume":"4","author":"Stutterd","year":"2017","journal-title":"Ann Clin Transl Neurol"},{"issue":"13","key":"10.1016\/j.gimo.2024.101837_bib6","doi-asserted-by":"crossref","first-page":"1718","DOI":"10.1091\/mbc.E18-01-0015","article-title":"PI(3,5)P2 controls vacuole potassium transport to support cellular osmoregulation","volume":"29","author":"Wilson","year":"2018","journal-title":"Mol Biol Cell"},{"issue":"6","key":"10.1016\/j.gimo.2024.101837_bib7","doi-asserted-by":"crossref","first-page":"1397","DOI":"10.1074\/mcp.M113.034108","article-title":"The Vac14-interaction network is linked to regulators of the endolysosomal and autophagic pathway","volume":"13","author":"Schulze","year":"2014","journal-title":"Mol Cell Proteomics"},{"issue":"12","key":"10.1016\/j.gimo.2024.101837_bib8","doi-asserted-by":"crossref","first-page":"8656","DOI":"10.1007\/s12035-019-01693-8","article-title":"Severe consequences of SAC3\/FIG4 phosphatase deficiency to phosphoinositides in patients with Charcot-Marie-Tooth disease Type-4J","volume":"56","author":"Shisheva","year":"2019","journal-title":"Mol Neurobiol"},{"issue":"5","key":"10.1016\/j.gimo.2024.101837_bib9","doi-asserted-by":"crossref","first-page":"781","DOI":"10.1016\/j.ajhg.2013.03.020","article-title":"Yunis-Varon syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase","volume":"92","author":"Campeau","year":"2013","journal-title":"Am J Hum Genet"},{"issue":"5","key":"10.1016\/j.gimo.2024.101837_bib10","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1002\/humu.23720","article-title":"Cerebral hypomyelination associated with biallelic variants of FIG4","volume":"40","author":"Lenk","year":"2019","journal-title":"Hum Mutat"},{"issue":"6","key":"10.1016\/j.gimo.2024.101837_bib11","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1002104","article-title":"Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J","volume":"7","author":"Lenk","year":"2011","journal-title":"PLoS Genet"},{"issue":"1","key":"10.1016\/j.gimo.2024.101837_bib12","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1016\/j.ajhg.2016.05.008","article-title":"Biallelic mutations of VAC14 in pediatric-onset neurological disease","volume":"99","author":"Lenk","year":"2016","journal-title":"Am J Hum Genet"},{"issue":"9","key":"10.1016\/j.gimo.2024.101837_bib13","doi-asserted-by":"crossref","first-page":"1049","DOI":"10.1038\/ejhg.2017.99","article-title":"Yunis-Var\u00f3n syndrome caused by biallelic VAC14 mutations","volume":"25","author":"Lines","year":"2017","journal-title":"Eur J Hum Genet"},{"issue":"44","key":"10.1016\/j.gimo.2024.101837_bib14","doi-asserted-by":"crossref","first-page":"17518","DOI":"10.1073\/pnas.0702275104","article-title":"Loss of Vac14, a regulator of the signaling lipid phosphatidylinositol 3,5-bisphosphate, results in neurodegeneration in mice","volume":"104","author":"Zhang","year":"2007","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.gimo.2024.101837_bib15","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.13023","article-title":"PI(3,5)P2 biosynthesis regulates oligodendrocyte differentiation by intrinsic and extrinsic mechanisms","volume":"5","author":"Mironova","year":"2016","journal-title":"Elife"},{"issue":"2","key":"10.1016\/j.gimo.2024.101837_bib16","first-page":"290","article-title":"Yunis-Varon syndrome","volume":"31","author":"Siddique","year":"2019","journal-title":"J\u00a0Ayub Med Coll Abbottabad"},{"issue":"2","key":"10.1016\/j.gimo.2024.101837_bib17","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1093\/hmg\/ddv480","article-title":"Rescue of neurodegeneration in the Fig4 null mouse by a catalytically inactive FIG4 transgene","volume":"25","author":"Lenk","year":"2016","journal-title":"Hum Mol Genet"},{"issue":"7","key":"10.1016\/j.gimo.2024.101837_bib18","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1001\/archpedi.1980.02130190017005","article-title":"Cleidocranial dysostosis, severe micrognathism, bilateral absence of thumbs and first metatarsal bone, and distal aphalangia: a new genetic syndrome","volume":"134","author":"Yunis","year":"1980","journal-title":"Am J Dis Child"},{"issue":"12","key":"10.1016\/j.gimo.2024.101837_bib19","doi-asserted-by":"crossref","first-page":"1068","DOI":"10.1212\/WNL.0000000000000241","article-title":"Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria","volume":"82","author":"Baulac","year":"2014","journal-title":"Neurology"},{"issue":"12","key":"10.1016\/j.gimo.2024.101837_bib20","doi-asserted-by":"crossref","first-page":"1237","DOI":"10.1038\/s10038-019-0678-1","article-title":"Homozygous variant, p.(Arg643Trp) in VAC14 causes striatonigral degeneration: report of a novel variant and review of VAC14-related disorders","volume":"64","author":"Kaur","year":"2019","journal-title":"J\u00a0Hum Genet"},{"issue":"2","key":"10.1016\/j.gimo.2024.101837_bib21","doi-asserted-by":"crossref","DOI":"10.1002\/mgg3.1101","article-title":"Novel VAC14 variants identified in two Chinese siblings with childhood-onset striatonigral degeneration","volume":"8","author":"Liao","year":"2020","journal-title":"Mol Genet Genomic Med"},{"issue":"6","key":"10.1016\/j.gimo.2024.101837_bib22","doi-asserted-by":"crossref","DOI":"10.1101\/mcs.a003715","article-title":"VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation","volume":"5","author":"Lyon","year":"2019","journal-title":"Cold Spring Harb Mol Case Stud"},{"issue":"4","key":"10.1016\/j.gimo.2024.101837_bib23","doi-asserted-by":"crossref","first-page":"3477","DOI":"10.1007\/s12035-017-0535-1","article-title":"A\u00a0clinical and molecular genetic study of 50 families with autosomal recessive parkinsonism revealed known and novel gene mutations","volume":"55","author":"Taghavi","year":"2018","journal-title":"Mol Neurobiol"},{"issue":"2","key":"10.1016\/j.gimo.2024.101837_bib24","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1111\/cge.13771","article-title":"Clinical and radiological characterization of novel FIG4-related combined system disease with neuropathy","volume":"98","author":"Wright","year":"2020","journal-title":"Clin Genet"},{"issue":"3","key":"10.1016\/j.gimo.2024.101837_bib25","doi-asserted-by":"crossref","first-page":"864","DOI":"10.1002\/ajmg.a.63084","article-title":"T2 olivary nuclei hyperintensities: a characteristic neuroimaging finding in FIG4-related leukoencephalopathy","volume":"191","author":"Sait","year":"2023","journal-title":"Am J Med Genet A"},{"issue":"5","key":"10.1016\/j.gimo.2024.101837_bib26","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1016\/S8756-3282(01)00416-1","article-title":"The mouse osteopetrotic grey-lethal mutation induces a defect in osteoclast maturation\/function","volume":"28","author":"Rajapurohitam","year":"2001","journal-title":"Bone"},{"issue":"2","key":"10.1016\/j.gimo.2024.101837_bib27","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/S0065-1281(87)80012-0","article-title":"Bone embedding in pure methyl methacrylate at low temperature preserves enzyme activities","volume":"81","author":"Chappard","year":"1987","journal-title":"Acta Histochem"},{"issue":"6","key":"10.1016\/j.gimo.2024.101837_bib28","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1002\/jbmr.5650020617","article-title":"Bone histomorphometry: standardization of nomenclature, symbols, and units. Report of the ASBMR Histomorphometry Nomenclature Committee","volume":"2","author":"Parfitt","year":"1987","journal-title":"J\u00a0Bone Miner Res"},{"issue":"2","key":"10.1016\/j.gimo.2024.101837_bib29","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/S0092-8674(00)81558-5","article-title":"Leptin inhibits bone formation through a hypothalamic relay: a central control of bone mass","volume":"100","author":"Ducy","year":"2000","journal-title":"Cell"},{"issue":"Pt 7","key":"10.1016\/j.gimo.2024.101837_bib30","doi-asserted-by":"crossref","first-page":"1959","DOI":"10.1093\/brain\/awr148","article-title":"Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P2 phosphatase FIG4","volume":"134","author":"Nicholson","year":"2011","journal-title":"Brain"},{"issue":"3","key":"10.1016\/j.gimo.2024.101837_bib31","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1016\/j.plipres.2009.12.001","article-title":"Phosphoinositide phosphatases in cell biology and disease","volume":"49","author":"Liu","year":"2010","journal-title":"Prog Lipid Res"},{"issue":"7809","key":"10.1016\/j.gimo.2024.101837_bib32","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","article-title":"The mutational constraint spectrum quantified from variation in 141,456 humans","volume":"581","author":"Karczewski","year":"2020","journal-title":"Nature"},{"issue":"12","key":"10.1016\/j.gimo.2024.101837_bib33","doi-asserted-by":"crossref","first-page":"822","DOI":"10.1038\/jhg.2013.104","article-title":"Novel FIG4 mutations in Yunis-Varon syndrome","volume":"58","author":"Nakajima","year":"2013","journal-title":"J\u00a0Hum Genet"},{"issue":"9","key":"10.1016\/j.gimo.2024.101837_bib34","doi-asserted-by":"crossref","first-page":"788","DOI":"10.1136\/jmg.30.9.788","article-title":"Congenital heart malformation in Yunis-Varon syndrome","volume":"30","author":"Ad\u00e8s","year":"1993","journal-title":"J\u00a0Med Genet"},{"issue":"4","key":"10.1016\/j.gimo.2024.101837_bib35","doi-asserted-by":"crossref","first-page":"532","DOI":"10.1002\/ajmg.a.32135","article-title":"Yunis-Varon syndrome: further delineation of the phenotype","volume":"146A","author":"Basel-Vanagaite","year":"2008","journal-title":"Am J Med Genet A"},{"issue":"1","key":"10.1016\/j.gimo.2024.101837_bib36","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1016\/j.ejmg.2010.09.013","article-title":"New ocular findings in two sisters with Yunis-Var\u00f3n syndrome and literature review","volume":"54","author":"Corona-Rivera","year":"2011","journal-title":"Eur J Med Genet"},{"issue":"5","key":"10.1016\/j.gimo.2024.101837_bib37","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1016\/0960-8966(94)00089-R","article-title":"Generalized lysosomal storage in Yunis Var\u00f3n syndrome","volume":"5","author":"Dworzak","year":"1995","journal-title":"Neuromuscul Disord"},{"issue":"2","key":"10.1016\/j.gimo.2024.101837_bib38","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1136\/jmg.27.2.114","article-title":"Yunis-Varon syndrome with severe osteodysplasty","volume":"27","author":"Garrett","year":"1990","journal-title":"J\u00a0Med Genet"},{"issue":"1","key":"10.1016\/j.gimo.2024.101837_bib39","first-page":"85","article-title":"Yunis-Var\u00f3n syndrome: the first report of two Iranian cases","volume":"52","author":"Hadipour","year":"2014","journal-title":"Acta Med Iran"},{"issue":"1","key":"10.1016\/j.gimo.2024.101837_bib40","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/j.ejmg.2011.09.002","article-title":"Primary pulmonary hypertension, congenital heart defect, central nervous system malformations, hypo- and aplastic toes: another case of Yunis- Var\u00f3n syndrome or report of a new entity","volume":"55","author":"Reutter","year":"2012","journal-title":"Eur J Med Genet"},{"issue":"6","key":"10.1016\/j.gimo.2024.101837_bib41","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1159\/000516971","article-title":"FIG4-Associated Yunis-Varon syndrome: identification of a novel missense variant","volume":"12","author":"Umair","year":"2021","journal-title":"Mol Syndromol"}],"container-title":["Genetics in Medicine Open"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S294977442400983X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S294977442400983X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,12,27]],"date-time":"2024-12-27T09:10:28Z","timestamp":1735290628000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S294977442400983X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024]]},"references-count":41,"alternative-id":["S294977442400983X"],"URL":"https:\/\/doi.org\/10.1016\/j.gimo.2024.101837","relation":{},"ISSN":["2949-7744"],"issn-type":[{"value":"2949-7744","type":"print"}],"subject":[],"published":{"date-parts":[[2024]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Exploring the phenotypic spectrum and osteopenia mechanisms in Yunis-Var\u00f3n syndrome","name":"articletitle","label":"Article Title"},{"value":"Genetics in Medicine Open","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gimo.2024.101837","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 The Authors. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics.","name":"copyright","label":"Copyright"}],"article-number":"101837"}}