ZFIN ID: ZDB-PUB-110110-6
Mutations in the SPARC-Related Modular Calcium-Binding Protein 1 Gene, SMOC1, Cause Waardenburg Anophthalmia Syndrome
Abouzeid, H., Boisset, G., Favez, T., Youssef, M., Marzouk, I., Shakankiry, N., Bayoumi, N., Descombes, P., Agosti, C., Munier, F.L., and Schorderet, D.F.
Date: 2011
Source: American journal of human genetics   88(1): 92-98 (Journal)
Registered Authors: Boisset, Gaƫlle, Schorderet, Daniel
Keywords: none
MeSH Terms:
  • Adult
  • Base Sequence
  • Child
  • Consanguinity
  • Eye/growth & development
  • Female
  • Fingers/growth & development
  • Genes, Recessive
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Osteonectin/genetics*
  • Pedigree
  • Waardenburg Syndrome/genetics
PubMed: 21194680 Full text @ Am. J. Hum. Genet.
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.