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research article
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 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.
Type
research article
Web of Science ID
WOS:000286501500009
Authors
Abouzeid, Hana
•
Boisset, Gaelle
•
Favez, Tatiana
•
Youssef, Mohamed
•
Marzouk, Iman
•
Shakankiry, Nihal
•
Bayoumi, Nader
•
Descombes, Patrick
•
Agosti, Celine
•
Munier, Francis L.
Publication date
2011
Published in
Volume
88
Start page
92
End page
98
Peer reviewed
REVIEWED
EPFL units
Available on Infoscience
December 16, 2011
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