Journal
HUMAN MUTATION
Volume 35, Issue 8, Pages 949-953Publisher
WILEY-BLACKWELL
DOI: 10.1002/humu.22580
Keywords
ALDH1A3; anophthalmia; microphthalmia; eye development
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Anophthalmia or microphthalmia (A/M), characterized by absent or small eye, can be unilateral or bilateral and represent developmental anomalies due to the mutations in several genes. Recently, mutations in aldehyde dehydrogenase family 1, member A3 (ALDH1A3) also known as retinaldehyde dehydrogenase 3, have been reported to cause A/M. Here, we screened a cohort of 75 patients with A/M and showed that mutations in ALDH1A3 occurred in six families. Based on this series, we estimate that mutations in ALDH1A3 represent a major cause of A/M in consanguineous families, and may be responsible for approximately 10% of the cases. Screening of this gene should be performed in a first line of investigation, together with SOX2. (C) 2014 Wiley Periodicals, Inc.
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