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

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• 作者：Hana Abouzeid¹ ; ² ; ⁷ ; Gaë ; lle Boisset¹ ; ⁷ ; Tatiana Favez¹ ; Mohamed Youssef³ ; Iman Marzouk³ ; Nihal Shakankiry⁴ ; Nader Bayoumi⁴ ; Patrick Descombes⁵ ; Cé ; line Agosti¹ ; Francis L. Munier¹ ; ² ; Daniel F. Schorderet¹ ; ² ; ⁶ ; ^{daniel.schorderet@irovision.ch}
• 刊名：The American Journal of Human Genetics
• 出版年：2011
• 出版时间：7 January 2011
• 年：2011
• 卷：88
• 期：1
• 页码：92-98
• 全文大小：795 K

文摘

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.