Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome

  • Am J Hum Genet. 2011 Jan 7;88(1):92-8. doi: 10.1016/j.ajhg.2010.12.002.
Hana Abouzeid  1 ,  Gaëlle Boisset ,  Tatiana Favez ,  Mohamed Youssef ,  Iman Marzouk ,  Nihal Shakankiry ,  Nader Bayoumi ,  Patrick Descombes ,  Céline Agosti ,  Francis L Munier ,  Daniel F Schorderet
Affiliations
  • 1. IRO - Institute for Research in Ophthalmology, 1950 Sion, Switzerland; Jules-Gonin Eye Hospital, University of Lausanne, 1003 Lausanne.
PMID: 21194680 DOI: 10.1016/j.ajhg.2010.12.002
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.