{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T11:31:46Z","timestamp":1773833506364,"version":"3.50.1"},"reference-count":33,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100004731","name":"Natural Science Foundation of Zhejiang Province","doi-asserted-by":"publisher","award":["LQ19H090019"],"award-info":[{"award-number":["LQ19H090019"]}],"id":[{"id":"10.13039\/501100004731","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008990","name":"Zhejiang Province Science and Technology Department","doi-asserted-by":"publisher","award":["2019C03025"],"award-info":[{"award-number":["2019C03025"]}],"id":[{"id":"10.13039\/501100008990","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100014103","name":"Key Technology Research and Development Program of Shandong","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100014103","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["8217060260"],"award-info":[{"award-number":["8217060260"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinica Chimica Acta"],"published-print":{"date-parts":[[2022,1]]},"DOI":"10.1016\/j.cca.2021.12.007","type":"journal-article","created":{"date-parts":[[2021,12,11]],"date-time":"2021-12-11T11:27:32Z","timestamp":1639222052000},"page":"23-28","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"special_numbering":"C","title":["Identification of of a PAX2 mutation from maternal mosaicism causes recurrent renal disorder in siblings"],"prefix":"10.1016","volume":"525","author":[{"given":"Bei","family":"Liu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mengjia","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanmei","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yingzhi","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yeqing","family":"Qian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Minyue","family":"Dong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"12","key":"10.1016\/j.cca.2021.12.007_b0005","doi-asserted-by":"crossref","first-page":"1207","DOI":"10.1038\/ejhg.2011.102","article-title":"Renal coloboma syndrome","volume":"19","author":"Schimmenti","year":"2011","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.cca.2021.12.007_b0010","unstructured":"M.A. Bower, Schimmenti, L.A., Eccles, M.R., PAX2-Related Disorder. In: Adam, M.P., et al., editors., GeneReviews\u00ae [Internet] Seattle, WA: GeneReviews. (1993-2019)."},{"issue":"3","key":"10.1016\/j.cca.2021.12.007_b0015","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1002\/humu.22020","article-title":"Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database","volume":"33","author":"Bower","year":"2012","journal-title":"Hum. Mutat."},{"issue":"3","key":"10.1016\/j.cca.2021.12.007_b0020","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1000870","article-title":"Papillorenal syndrome-causing missense mutations in PAX2\/Pax2 result in hypomorphic alleles in mouse and human","volume":"6","author":"Alur","year":"2010","journal-title":"PLoS Genet."},{"issue":"2","key":"10.1016\/j.cca.2021.12.007_b0025","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1002\/ajmg.1320590217","article-title":"Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies","volume":"59","author":"Schimmenti","year":"1995","journal-title":"Am. J. Med. Genet."},{"issue":"1","key":"10.1016\/j.cca.2021.12.007_b0030","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1034\/j.1399-0004.1999.560101.x","article-title":"Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations","volume":"56","author":"Eccles","year":"1999","journal-title":"Clin. Genet."},{"issue":"6","key":"10.1016\/j.cca.2021.12.007_b0035","doi-asserted-by":"crossref","DOI":"10.1002\/mgg3.701","article-title":"Diverse phenotypes in children with PAX2-related disorder","volume":"7","author":"Deng","year":"2019","journal-title":"Mol. Genet. Genomic Med."},{"issue":"6","key":"10.1016\/j.cca.2021.12.007_b0040","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1111\/j.1399-0004.2010.01588.x","article-title":"PAX2 gene mutations in pediatric and young adult transplant recipients: kidney and urinary tract malformations without ocular anomalies","volume":"80","author":"Negrisolo","year":"2011","journal-title":"Clin. Genet."},{"issue":"1","key":"10.1016\/j.cca.2021.12.007_b0045","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1186\/s12882-018-1044-9","article-title":"New PAX2 heterozygous mutation in a child with chronic kidney disease: a case report and review of the literature","volume":"19","author":"Zhang","year":"2018","journal-title":"BMC Nephrol."},{"issue":"9","key":"10.1016\/j.cca.2021.12.007_b0050","doi-asserted-by":"crossref","first-page":"1942","DOI":"10.1681\/ASN.2013070686","article-title":"Mutations in PAX2 associate with adult-onset FSGS","volume":"25","author":"Barua","year":"2014","journal-title":"J. Am. Soc. Nephrol. : JASN"},{"issue":"3","key":"10.1016\/j.cca.2021.12.007_b0055","doi-asserted-by":"crossref","first-page":"724","DOI":"10.1021\/acschembio.6b00782","article-title":"Inhibition of Pax2 Transcription Activation with a Small Molecule that Targets the DNA Binding Domain","volume":"12","author":"Grimley","year":"2017","journal-title":"ACS Chem. Biol."},{"issue":"21","key":"10.1016\/j.cca.2021.12.007_b0060","doi-asserted-by":"crossref","first-page":"3015","DOI":"10.1038\/onc.2016.455","article-title":"PAX2 function, regulation and targeting in fallopian tube-derived high-grade serous ovarian cancer","volume":"36","author":"Modi","year":"2017","journal-title":"Oncogene"},{"issue":"1","key":"10.1016\/j.cca.2021.12.007_b0065","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1093\/hmg\/9.1.1","article-title":"Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +\/- mutant mice","volume":"9","author":"Porteous","year":"2000","journal-title":"Hum. Mol. Genet."},{"issue":"11","key":"10.1016\/j.cca.2021.12.007_b0070","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1038\/sj.ejhg.5200539","article-title":"PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism","volume":"8","author":"Amiel","year":"2000","journal-title":"Eur. J. Hum. Genet."},{"issue":"9","key":"10.1016\/j.cca.2021.12.007_b0075","doi-asserted-by":"crossref","first-page":"1283","DOI":"10.1007\/s00467-007-0525-z","article-title":"A clinico-genetic study of renal coloboma syndrome in children","volume":"22","author":"Cheong","year":"2007","journal-title":"Pediatr. Nephrol."},{"issue":"12","key":"10.1016\/j.cca.2021.12.007_b0080","doi-asserted-by":"crossref","first-page":"2229","DOI":"10.1002\/pbc.25654","article-title":"Paternal Somatic Mosaicism of a Novel Frameshift Mutation in ELANE Causing Severe Congenital Neutropenia","volume":"62","author":"Kim","year":"2015","journal-title":"Pediatr. Blood Cancer"},{"issue":"11","key":"10.1016\/j.cca.2021.12.007_b0085","doi-asserted-by":"crossref","first-page":"3653","DOI":"10.1007\/s00467-021-05141-5","article-title":"Diagnostic and clinical utility of genetic testing in children with kidney failure","volume":"36","author":"Chen","year":"2021","journal-title":"Pediatric Nephrology"},{"issue":"14","key":"10.1016\/j.cca.2021.12.007_b0090","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with Burrows-Wheeler transform","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"issue":"9","key":"10.1016\/j.cca.2021.12.007_b0095","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data","volume":"20","author":"McKenna","year":"2010","journal-title":"Genome Res."},{"issue":"5","key":"10.1016\/j.cca.2021.12.007_b0100","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of medical genetics and genomics and the association for molecular pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genetics Medicine : Official J. Am. College Medical Genetics"},{"key":"10.1016\/j.cca.2021.12.007_b0105","doi-asserted-by":"crossref","first-page":"630","DOI":"10.3389\/fgene.2019.00630","article-title":"Paternal low-level mosaicism-caused SATB2-associated syndrome","volume":"10","author":"Qian","year":"2019","journal-title":"Front. Genet."},{"key":"10.1016\/j.cca.2021.12.007_b0110","first-page":"697","article-title":"Zum krankheitsbild der Handmannschen sehnervenanomalie: windenbluten-(Morning Glory) syndrom?","volume":"170","author":"Reiger","year":"1977","journal-title":"Klin Mbl Augenheilk"},{"issue":"4","key":"10.1016\/j.cca.2021.12.007_b0115","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1038\/ng0495-358","article-title":"Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux","volume":"9","author":"Sanyanusin","year":"1995","journal-title":"Nat. Genet."},{"key":"10.1016\/j.cca.2021.12.007_b0120","doi-asserted-by":"crossref","unstructured":"M.L. Sanyanusin P, Sullivan MJ, Weaver RG, Eccles MR., Mutation of PAX2 in two siblings with renal-coloboma syndrome., Human molecular genetics 4(11) (1995) 2183-2184.","DOI":"10.1093\/hmg\/4.11.2183"},{"issue":"9","key":"10.1016\/j.cca.2021.12.007_b0125","doi-asserted-by":"crossref","first-page":"2754","DOI":"10.1681\/ASN.2005030239","article-title":"Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2","volume":"16","author":"Fletcher","year":"2005","journal-title":"J. Am. Soc. Nephrol. : JASN"},{"issue":"5","key":"10.1016\/j.cca.2021.12.007_b0130","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1080\/01658107.2017.1307995","article-title":"Three New PAX2 Gene Mutations in Patients with Papillorenal Syndrome","volume":"41","author":"Galvez-Ruiz","year":"2017","journal-title":"Neuroophthalmology"},{"issue":"2","key":"10.1016\/j.cca.2021.12.007_b0135","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1038\/nrg.2016.145","article-title":"Mosaicism in health and disease - clones picking up speed","volume":"18","author":"Forsberg","year":"2017","journal-title":"Nat. Rev. Genet."},{"issue":"5","key":"10.1016\/j.cca.2021.12.007_b0140","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1038\/nrg3424","article-title":"A genomic view of mosaicism and human disease","volume":"14","author":"Biesecker","year":"2013","journal-title":"Nat. Rev. Genet."},{"issue":"1","key":"10.1016\/j.cca.2021.12.007_b0145","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1111\/cge.13539","article-title":"ATP1A3 mosaicism in families with alternating hemiplegia of childhood","volume":"96","author":"Yang","year":"2019","journal-title":"Clin. Genet."},{"issue":"1","key":"10.1016\/j.cca.2021.12.007_b0150","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1186\/s13073-019-0658-2","article-title":"A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing","volume":"11","author":"Cao","year":"2019","journal-title":"Genome Med."},{"issue":"1","key":"10.1016\/j.cca.2021.12.007_b0155","doi-asserted-by":"crossref","first-page":"2409","DOI":"10.1038\/s41598-017-02217-x","article-title":"Droplet Digital PCR versus qPCR for gene expression analysis with low abundant targets: from variable nonsense to publication quality data","volume":"7","author":"Taylor","year":"2017","journal-title":"Sci. Rep."},{"issue":"12","key":"10.1016\/j.cca.2021.12.007_b0160","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1016\/j.urolonc.2019.06.010","article-title":"Usefulness of droplet digital PCR and Sanger sequencing for detection of FGFR3 mutation in bladder cancer","volume":"37","author":"Borkowska","year":"2019","journal-title":"Urologic Oncol."},{"issue":"1","key":"10.1016\/j.cca.2021.12.007_b0165","doi-asserted-by":"crossref","first-page":"2985","DOI":"10.1038\/s41467-019-11059-2","article-title":"Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data","volume":"10","author":"Wright","year":"2019","journal-title":"Nat. Commun."}],"container-title":["Clinica Chimica Acta"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898121004290?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898121004290?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,14]],"date-time":"2025-09-14T15:00:59Z","timestamp":1757862059000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0009898121004290"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1]]},"references-count":33,"alternative-id":["S0009898121004290"],"URL":"https:\/\/doi.org\/10.1016\/j.cca.2021.12.007","relation":{},"ISSN":["0009-8981"],"issn-type":[{"value":"0009-8981","type":"print"}],"subject":[],"published":{"date-parts":[[2022,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Identification of of a PAX2 mutation from maternal mosaicism causes recurrent renal disorder in siblings","name":"articletitle","label":"Article Title"},{"value":"Clinica Chimica Acta","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.cca.2021.12.007","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}