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

Details

Serval ID
serval:BIB_DDEE744E4923
Type
Article: article from journal or magazin.
Collection
Publications
Title
Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome.
Journal
American Journal of Human Genetics
Author(s)
Schorderet D.F., Nichini O., Boisset G., Polok B., Tiab L., Mayeur H., Raji B., de la Houssaye G., Abitbol M.M., Munier F.L.
ISSN
1537-6605[electronic]
Publication state
Published
Issued date
2008
Peer-reviewed
Oui
Volume
82
Number
5
Pages
1178-1184
Language
english
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.
Keywords
Aged, Animals, Consanguinity, Ear/abnormalities, Embryo, Mammalian/metabolism, Embryo, Nonmammalian/metabolism, Eye Abnormalities/embryology, Eye Abnormalities/genetics, Female, Fetus/metabolism, Homeodomain Proteins/biosynthesis, Homeodomain Proteins/genetics, Humans, Male, Mice, Middle Aged, Molecular Sequence Data, Organ Specificity, Pedigree, Syndrome, Transcription Factors/biosynthesis, Transcription Factors/genetics, Zebrafish/embryology, Zebrafish/metabolism
Pubmed
Web of science
Open Access
Yes
Create date
05/10/2009 15:41
Last modification date
20/08/2019 16:02
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