Mutations in ALDH1A3 Represent a Frequent Cause of Microphthalmia/Anophthalmia in Consanguineous Families

被引：23

作者：

Abouzeid, Hana ^{[1
,2
]}

Favez, Tatiana ^{[1
]}

Schmid, Angelique ^{[1
]}

Agosti, Celine ^{[1
]}

Youssef, Mohammed ^{[3
]}

Marzouk, Iman ^{[3
]}

El Shakankiry, Nihal ^{[4
]}

Bayoumi, Nader ^{[4
]}

Munier, Francis L. ^{[1
,2
]}

Schorderet, Daniel F. ^{[1
,2
,5
]}

机构：

[1] Inst Res Ophthalmol, CH-1950 Sion, Switzerland

[2] Univ Lausanne, Jules Gonin Eye Hosp, Fdn Asile Aveugles, Lausanne Unil, Switzerland

[3] Univ Alexandria, Dept Pediat, Alexandria, Egypt

[4] Univ Alexandria, Dept Ophthalmol, Alexandria, Egypt

[5] Ecole Polytech Fed Lausanne, Fac Life Sci, CH-1015 Lausanne, Switzerland

来源：

HUMAN MUTATION | 2014年 / 35卷 / 08期

关键词：

ALDH1A3; anophthalmia; microphthalmia; eye development; EYE DEVELOPMENT; HOMEOBOX GENE; ANOPHTHALMIA; ANOMALIES; PROTEIN; MOUSE; RAX;

D O I：

10.1002/humu.22580

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：949 / 953

页数：5

共 21 条

[21] Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies
Ye, Ming
Berry-Wynne, Karyn M.
Asai-Coakwell, Mika
Sundaresan, Periasamy
Footz, Tim
French, Curtis R.
Abitbol, Marc
Fleisch, Valerie C.
Corbett, Nathan
Allison, W. Ted
Drummond, Garry
Walter, Michael A.
Underhill, T. Michael
Waskiewicz, Andrew J.
Lehmann, Ordan J.
[J]. HUMAN MOLECULAR GENETICS, 2010, 19 (02) : 287 - 298

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