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

Détails

ID Serval
serval:BIB_DDEE744E4923
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome.
Périodique
American Journal of Human Genetics
Auteur(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]
Statut éditorial
Publié
Date de publication
2008
Peer-reviewed
Oui
Volume
82
Numéro
5
Pages
1178-1184
Langue
anglais
Résumé
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.
Mots-clé
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
Oui
Création de la notice
05/10/2009 15:41
Dernière modification de la notice
20/08/2019 16:02
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