{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:34:11Z","timestamp":1761708851581},"reference-count":10,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,4,22]],"date-time":"2013-04-22T00:00:00Z","timestamp":1366588800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2014,3]]},"abstract":"<jats:p>Autosomal recessive diseases are typically caused by the biparental inheritance of familial mutant alleles. Unusual mechanisms by which the recessiveness of a mutant allele is unmasked include uniparental isodisomy and the occurrence of a <jats:italic>de novo<\/jats:italic> chromosomal rearrangement that disrupts the other allele. Gonadal mosaicism is a condition in which a postfertilization mutation is confined to the gamete precursors and is not detected in somatic tissues. Gonadal mosaicism is known to give the impression of autosomal recessive inheritance when recurrence of an autosomal\u2010dominant condition among offspring of phenotypically normal parents is observed. Here, we report an extremely rare event in which maternal gonadal mosaicism for a recessive mutation in <jats:italic><jats:styled-content style=\"fixed-case\">COL4A4<\/jats:styled-content><\/jats:italic> caused the recurrence of Alport syndrome within a consanguineous family. Such rare occurrence should be taken into account when analyzing pedigrees both for clinical and research purposes.<\/jats:p>","DOI":"10.1111\/cge.12156","type":"journal-article","created":{"date-parts":[[2013,4,2]],"date-time":"2013-04-02T17:14:47Z","timestamp":1364922887000},"page":"278-281","source":"Crossref","is-referenced-by-count":18,"title":["Gonadal mosaicism as a rare cause of autosomal recessive inheritance"],"prefix":"10.1111","volume":"85","author":[{"given":"S.","family":"Anazi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Al\u2010Sabban","sequence":"additional","affiliation":[{"name":"Division of Nephrology, Department of Pediatrics King Faisal Specialist Hospital and Research Center  Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.S.","family":"Alkuraya","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Cell Biology, College of Medicine Alfaisal University  Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,4,22]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.ge.24.120190.003151"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(02)07338-5"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/301608"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng874"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-004-1105-y"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.58"},{"key":"e_1_2_5_8_1","doi-asserted-by":"crossref","unstructured":"Alkuraya FS. Discovery of rare homozygous mutations from studies of consanguineous pedigrees. Curr Protoc Hum Genet. Editorial board Jonathan L Haines [et al] 2012: Chapter 6: Unit6 12.","DOI":"10.1002\/0471142905.hg0612s75"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181fbfcc4"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181ceb95d"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3001756"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12156","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12156","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.12156","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12156","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,11]],"date-time":"2023-09-11T11:39:03Z","timestamp":1694432343000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12156"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,4,22]]},"references-count":10,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2014,3]]}},"alternative-id":["10.1111\/cge.12156"],"URL":"https:\/\/doi.org\/10.1111\/cge.12156","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,4,22]]}}}