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

Details

Serval ID
serval:BIB_3383BA446011
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Mutations in the SPARC-Related Modular Calcium-Binding Protein 1 Gene, SMOC1, Cause Waardenburg Anophthalmia Syndrome.
Journal
American Journal of Human Genetics
Author(s)
Abouzeid H., Boisset G., Favez T., Youssef M., Marzouk I., Shakankiry N., Bayoumi N., Descombes P., Agosti C., Munier F.L., Schorderet D.F.
ISSN
1537-6605[electronic], 0002-9297[linking]
Publication state
Published
Issued date
2011
Peer-reviewed
Oui
Volume
88
Number
1
Pages
92-98
Language
english
Notes
Publication types: Journal Article Publication Status: ppublish
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.
Pubmed
Web of science
Open Access
Yes
Create date
23/01/2011 18:34
Last modification date
20/08/2019 13:19
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