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Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2
Author(s) -
Salem Nabeel J.M.,
Hempel Maja,
Heiliger KatrinJanine,
Hosie Stuart,
Meitinger Thomas,
Oexle Konrad
Publication year - 2013
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35883
Subject(s) - microphthalmia , coloboma , medicine , imperforate anus , haploinsufficiency , anophthalmia , nostril , anatomy , microdeletion syndrome , forehead , anal atresia , atresia , biology , genetics , chromosome , nose , gene , phenotype
A full term female newborn presented with prominent forehead, bilateral microphthalmia, iris coloboma and cataract, wide intercanthal distance, large, low‐set and protruding ears, skin tag at the left nasal nostril, imperforate anus with rectovestibular fistula, and postnatal growth delay with brachymicrocephaly. A marker chromosome was not detectable and the copy number of 22q11 was normal. However, array CGH revealed a 3.5 Mb microdeletion of chromosome region 3q26.32–3q26.33 (chr. 3: 178,598,162–182,114,483; hg19) which comprised the SOX2 gene. While SOX2 haploinsufficiency is known to cause microphthalmia and coloboma, it has not been described before in patients with anal atresia. © 2013 Wiley Periodicals, Inc.