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Am J Hum Genet. 2008 May;82(5):1178-84. doi: 10.1016/j.ajhg.2008.03.007.

Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome.

Author information

1
Institut de Recherche en Ophtalmologie, 1950 Sion, Switzerland. daniel.schorderet@irovision.ch

Abstract

Several dysmorphic syndromes affect the development of both the eye and the ear, but only a few are restricted to the eye and the external ear. We describe a developmental defect affecting the eye and the external ear in three members of a consanguineous family. This syndrome is characterized by ophthalmic anomalies (microcornea, microphthalmia, anterior-segment dysgenesis, cataract, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-cone dystrophy) and a particular cleft ear lobule. Linkage analysis and mutation screening revealed in the first exon of the NKX5-3 gene a homozygous 26 nucleotide deletion, generating a truncating protein that lacked the complete homeodomain. Morpholino knockdown expression of the zebrafish nkx5-3 induced microphthalmia and disorganization of the developing retina, thus confirming that this gene represents an additional member implicated in axial patterning of the retina.

PMID:
18423520
PMCID:
PMC2427260
DOI:
10.1016/j.ajhg.2008.03.007
[Indexed for MEDLINE]
Free PMC Article

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