{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T06:11:38Z","timestamp":1791353498688,"version":"4.3.1"},"reference-count":21,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,9,6]],"date-time":"2005-09-06T00:00:00Z","timestamp":1125964800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2005,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The SOX2 transcription factor is expressed early in the embryonic stem cells of the blastocyst and later in the neural stem cells. It is a member of the SOX family of proteins that carry a DNA\u2010binding high\u2010mobility group domain and additional domains that regulate embryonic development and cell fate determinations. We surveyed 93 patients with severe eye malformations for mutations in <jats:italic>SOX2<\/jats:italic>. Here, we report a novel nonsense mutation in one female patient with bilateral clinical anophthalmia, absence of all optic pathways, and other neurological abnormalities. The mutation, Q155X, creates a premature termination codon early in the transcriptional activation domain and is likely to be a null allele. Our data show that mutations in <jats:italic>SOX2<\/jats:italic> can cause not only anophthalmia, but also aplasia of the optic nerve, chiasm and optic tract, as well as modest bilateral sensorineural hearing loss, and global developmental delay, underscoring the importance of SOX2 in early human eye and brain development. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30803","type":"journal-article","created":{"date-parts":[[2005,9,6]],"date-time":"2005-09-06T20:46:42Z","timestamp":1126039602000},"page":"95-98","source":"Crossref","is-referenced-by-count":97,"title":["<i>SOX2<\/i> mutation causes anophthalmia, hearing loss, and brain anomalies"],"prefix":"10.1002","volume":"138A","author":[{"given":"Stephanie A.","family":"Hagstrom","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gayle J.T.","family":"Pauer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janet","family":"Reid","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ellen","family":"Simpson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sue","family":"Crowe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene H.","family":"Maumenee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elias I.","family":"Traboulsi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,9,6]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"190","article-title":"Rapid and efficient resolution of parentage by amplification of short tandem repeats","volume":"55","author":"Alford RL","year":"1994","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.224503"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M405514200"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/477"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1120"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/78071"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.01204"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(03)00497-5"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.997"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-9525(99)01955-1"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.887101"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2443.2002.00560.x"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.19.8.5453"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0959-437X(97)80147-5"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0495-358"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10884"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.10.1161"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh025"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/27.6.1409"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.9.21.2635"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.127.11.2367"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.30803","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30803","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T21:19:17Z","timestamp":1697663957000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30803"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,9,6]]},"references-count":21,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2005,10]]}},"alternative-id":["10.1002\/ajmg.a.30803"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30803","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,9,6]]}}}