{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T23:15:59Z","timestamp":1789946159735,"version":"4.0.1"},"reference-count":19,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,10,25]],"date-time":"2013-10-25T00:00:00Z","timestamp":1382659200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Shenzhen Municipal Government of China","award":["GJHZ20130417140916986"],"award-info":[{"award-number":["GJHZ20130417140916986"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2014,9]]},"abstract":"<jats:p>Anomalies of eye development can lead to the rare eye malformations microphthalmia and anophthalmia (small or absent ocular globes), which are genetically very heterogeneous. Several genes have been associated with microphthalmia and anophthalmia, and exome sequencing has contributed to the identification of new genes. Very recently, homozygous variations within <jats:italic><jats:styled-content style=\"fixed-case\">ALDH1A3<\/jats:styled-content><\/jats:italic> have been associated with autosomal recessive microphthalmia with or without cysts or coloboma, and with variable subphenotypes of developmental delay\/autism spectrum disorder in eight families. In a consanguineous family where three of the five siblings were affected with microphthalmia\/coloboma, we identified a novel homozygous missense mutation in <jats:italic><jats:styled-content style=\"fixed-case\">ALDH1A3<\/jats:styled-content><\/jats:italic> using exome sequencing. Of the three affected siblings, one had intellectual disability and one had intellectual disability and autism, while the last one presented with normal development. This study contributes further to the description of the clinical spectrum associated with <jats:italic><jats:styled-content style=\"fixed-case\">ALDH1A3<\/jats:styled-content><\/jats:italic> mutations, and illustrates the interfamilial clinical variation observed in individuals with <jats:italic><jats:styled-content style=\"fixed-case\">ALDH1A3<\/jats:styled-content><\/jats:italic> mutations.<\/jats:p>","DOI":"10.1111\/cge.12277","type":"journal-article","created":{"date-parts":[[2013,9,11]],"date-time":"2013-09-11T19:26:42Z","timestamp":1378927602000},"page":"276-281","source":"Crossref","is-referenced-by-count":25,"title":["A homozygous mutation in a consanguineous family consolidates the role of <i><scp>ALDH1A3<\/scp><\/i> in autosomal recessive microphthalmia"],"prefix":"10.1111","volume":"86","author":[{"given":"L.","family":"Roos","sequence":"first","affiliation":[{"name":"Applied Human Molecular Genetics, Kennedy Center, Rigshospitalet Copenhagen University Hospital  Glostrup Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Fang","sequence":"additional","affiliation":[{"name":"Department of Mendelian Disorder Research, BGI\u2010Shenzhen  Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Dali","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Copenhagen University Hospital, Rigshospitalet  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Jensen","sequence":"additional","affiliation":[{"name":"Eye Clinic, Kennedy Center, Rigshospitalet Copenhagen University Hospital  Glostrup Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Christoffersen","sequence":"additional","affiliation":[{"name":"Eye Clinic, Kennedy Center, Rigshospitalet Copenhagen University Hospital  Glostrup Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Mendelian Disorder Research, BGI\u2010Shenzhen  Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Mendelian Disorder Research, BGI\u2010Shenzhen  Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Xu","sequence":"additional","affiliation":[{"name":"BGI\u2010Europe  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Harris","sequence":"additional","affiliation":[{"name":"Department of Chemistry Technical University of Denmark  Kgs. 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