Mutations in ALDH1A3 Represent a Frequent Cause of Microphthalmia/Anophthalmia in Consanguineous Families. Issue 8 (3rd June 2014)

• Record Type: Journal Article
• Authors: Abouzeid, Hana; Favez, Tatiana; Schmid, Angélique; Agosti, Céline; Youssef, Mohammed; Marzouk, Iman; El Shakankiry, Nihal; Bayoumi, Nader; Munier, Francis L.; Schorderet, Daniel F.
• Is Part Of: Human mutation. Volume 35:Issue 8(2014:Aug.)
• Page Start: 949
• Page End: 953
• Publication Date: 2014-06-03
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22580
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22580-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Anophthalmia/microphthalmia (A/M) is characterized by absent or small eye. Among the various genes that have recently been implicated in this malformation, aldehyde dehydrogenase family 1, member A3 (<italic>ALDH1A3</italic>) is becoming an important player. Here we show that approximately 10% of recessive A/M are due to nonsense or missense mutations in this gene. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pght8nc6wr" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>