Mutations in the SPARC-Related Modular Calcium-Binding Protein 1 Gene, SMOC1, Cause Waardenburg Anophthalmia Syndrome

被引：65

作者：

Abouzeid, Hana ^{[1
,2
]}

Boisset, Gaelle ^{[1
]}

Favez, Tatiana ^{[1
]}

Youssef, Mohamed ^{[3
]}

Marzouk, Iman ^{[3
]}

Shakankiry, Nihal ^{[4
]}

Bayoumi, Nader ^{[4
]}

Descombes, Patrick ^{[5
]}

Agosti, Celine ^{[1
]}

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

Schorderet, Daniel E. ^{[1
,2
,6
]}

机构：

[1] IRO, CH-1950 Sion, Switzerland

[2] Univ Lausanne, Jules Gonin Eye Hosp, CH-1003 Lausanne, Switzerland

[3] Univ Alexandria, Genet Unit, Dept Paediat, Alexandria 21526, Egypt

[4] Univ Alexandria, Dept Ophthalmol, Alexandria 21526, Egypt

[5] Univ Geneva, NCCR Frontiers Genet, CH-1211 Geneva, Switzerland

[6] Ecole Polytech Fed Lausanne, Fed Sch Technol Lausanne, CH-1015 Lausanne, Switzerland

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2011年 / 88卷 / 01期

关键词：

OPHTHALMO-ACROMELIC SYNDROME; RECESSIVE ANOPHTHALMIA; HOMEOBOX GENE; MICROPHTHALMIA; EYE; ABNORMALITIES; ANOMALIES; FIBULIN-1; SOX2;

D O I：

10.1016/j.ajhg.2010.12.002

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Waardenburg anophthalmia syndrome, also known as microphthalmia with limb anomalies, ophthalmoacromelic syndrome, and anophthalmia-syndactyly, is a rare autosomal-recessive developmental disorder that has been mapped to 10p11.23. Here we show that this disease is heterogeneous by reporting on a consanguineous family, not linked to the 10p11.23 locus, whose two affected children have a homozygous mutation in SMOC1. Knockdown experiments of the zebrafish smoc1 revealed that smoc1 is important in eye development and that it is expressed in many organs, including brain and somites.

引用

页码：92 / 98

页数：7

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