Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome |
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| Authors: | Abouzeid Hana Boisset Gaëlle Favez Tatiana Youssef Mohamed Marzouk Iman Shakankiry Nihal Bayoumi Nader Descombes Patrick Agosti Céline Munier Francis L Schorderet Daniel F |
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| Institution: | 1IRO - Institute for Research in Ophthalmology, 1950 Sion, Switzerland;2Jules-Gonin Eye Hospital, University of Lausanne, 1003 Lausanne;3Department of Paediatrics, Genetic Unit, University of Alexandria, Alexandria - 21526, Egypt;4Department of Ophthalmology, University of Alexandria, Alexandria - 21526, Egypt;5NCCR “Frontiers in Genetics,” University of Geneva, 1211 Geneva, Switzerland;6EPFL – Federal School of Technology of Lausanne, 1015 Lausanne, Switzerland |
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| Abstract: | 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. |
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