title: Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome.
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.
authors.affiliation: IRO - Institute for Research in Ophthalmology, 1950 Sion, Switzerland; Jules-Gonin Eye Hospital, University of Lausanne, 1003 Lausanne.
authors.forename: Hana
authors.initials: H
authors.lastname: Abouzeid
authors.forename: Gaëlle
authors.initials: G
authors.lastname: Boisset
authors.forename: Tatiana
authors.initials: T
authors.lastname: Favez
authors.forename: Mohamed
authors.initials: M
authors.lastname: Youssef
authors.forename: Iman
authors.initials: I
authors.lastname: Marzouk
authors.forename: Nihal
authors.initials: N
authors.lastname: Shakankiry
authors.forename: Nader
authors.initials: N
authors.lastname: Bayoumi
authors.forename: Patrick
authors.initials: P
authors.lastname: Descombes
authors.forename: Céline
authors.initials: C
authors.lastname: Agosti
authors.forename: Francis L
authors.initials: FL
authors.lastname: Munier
authors.forename: Daniel F
authors.initials: DF
authors.lastname: Schorderet
mesh_terms: D000328:Adult; D001483:Base Sequence; D002648:Child; D003241:Consanguinity; D005123:Eye / Q000254:growth & development; D005260:Female; D005385:Fingers / Q000000981:diagnostic imaging / Q000254:growth & development; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D015676:Osteonectin / Q000235:genetics*; D010375:Pedigree; D011859:Radiography; D014849:Waardenburg Syndrome / Q000235:genetics
chemical_list: D015676:Osteonectin; C468135:SMOC1 protein, human