Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta.

Détails

Ressource 1Télécharger: BIB_34261EDA46B0.P001.pdf (1322.61 [Ko])
Etat: Public
Version: Final published version
ID Serval
serval:BIB_34261EDA46B0
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta.
Périodique
American journal of human genetics
Auteur(s)
Polok B., Escher P., Ambresin A., Chouery E., Bolay S., Meunier I., Nan F., Hamel C., Munier F.L., Thilo B., Mégarbané A., Schorderet D.F.
ISSN
1537-6605[electronic]
Statut éditorial
Publié
Date de publication
2009
Peer-reviewed
Oui
Volume
84
Numéro
2
Pages
259-65
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't - Publication Status: ppublish
Résumé
Cone-rod dystrophies are inherited dystrophies of the retina characterized by the accumulation of deposits mainly localized to the cone-rich macular region of the eye. Dystrophy can be limited to the retina or be part of a syndrome. Unlike nonsyndromic cone-rod dystrophies, syndromic cone-rod dystrophies are genetically heterogeneous with mutations in genes encoding structural, cell-adhesion, and transporter proteins. Using a genome-wide single-nucleotide polymorphism (SNP) haplotype analysis to fine map the locus and a gene-candidate approach, we identified homozygous mutations in the ancient conserved domain protein 4 gene (CNNM4) that either generate a truncated protein or occur in highly conserved regions of the protein. Given that CNNM4 is implicated in metal ion transport, cone-rod dystrophy and amelogenesis imperfecta may originate from abnormal ion homeostasis.
Mots-clé
Amelogenesis Imperfecta/genetics, Cation Transport Proteins/genetics, Female, Gene Duplication, Genes, Recessive, Humans, Male, Mutation, Pedigree, Polymorphism, Single Nucleotide, Retinal Cone Photoreceptor Cells/pathology, Retinal Rod Photoreceptor Cells/pathology, Retinitis Pigmentosa/genetics, Sequence Deletion
Pubmed
Web of science
Open Access
Oui
Création de la notice
30/09/2009 16:17
Dernière modification de la notice
20/08/2019 13:20
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