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

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 cons...

Full description

Saved in:
Bibliographic Details
Published in:American journal of human genetics 2011-01, Vol.88 (1), p.92-98
Main 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.
Format: Article
Language:English
Subjects:
Adult
Base Sequence
Binding sites
Biological and medical sciences
Child
Consanguinity
Danio rerio
Developmental disabilities
Eye - growth & development
Female
Fingers - diagnostic imaging
Fingers - growth & development
Fundamental and applied biological sciences. Psychology
Gene expression
General aspects. Genetic counseling
Genes, Recessive
Genetics of eukaryotes. Biological and molecular evolution
Genomics
Humans
Male
Malformations of the eye
Medical genetics
Medical sciences
Molecular and cellular biology
Molecular Sequence Data
Mutation
Ophthalmology
Osteonectin - genetics
Pedigree
Proteins
Radiography
Waardenburg Syndrome - genetics
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0002-9297
1537-6605
DOI:10.1016/j.ajhg.2010.12.002