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Am J Hum Genet. 2007 Feb;80(2):306-15. Epub 2006 Dec 29.

GDF6, a novel locus for a spectrum of ocular developmental anomalies.

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1
Department of Ophthalmology and Medical Genetics, University of Alberta, Edmonton, Alberta, T6G 2H7, Canada.

Abstract

Colobomata represent visually impairing ocular closure defects that are associated with a diverse range of developmental anomalies. Characterization of a chromosome 8q21.2-q22.1 segmental deletion in a patient with chorioretinal coloboma revealed elements of nonallelic homologous recombination and nonhomologous end joining. This genomic architecture extends the range of chromosomal rearrangements associated with human disease and indicates that a broader spectrum of human chromosomal rearrangements may use coupled homologous and nonhomologous mechanisms. We also demonstrate that the segmental deletion encompasses GDF6, encoding a member of the bone-morphogenetic protein family, and that inhibition of gdf6a in a model organism accurately recapitulates the proband's phenotype. The spectrum of disorders generated by morpholino inhibition and the more severe defects (microphthalmia and anophthalmia) observed at higher doses illustrate the key role of GDF6 in ocular development. These results underscore the value of integrated clinical and molecular investigation of patients with chromosomal anomalies.

PMID:
17236135
PMCID:
PMC1785352
DOI:
10.1086/511280
[Indexed for MEDLINE]
Free PMC Article
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