Eight previously unidentified mutations found in the OA1 ocular albinism gene.

Détails

Ressource 1Télécharger: BIB_C24D1B0A8EC3.P001.pdf (875.18 [Ko])
Etat: Serval
Version: de l'auteur
ID Serval
serval:BIB_C24D1B0A8EC3
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Eight previously unidentified mutations found in the OA1 ocular albinism gene.
Périodique
BMC Medical Genetics
Auteur(s)
Mayeur H., Roche O., Vêtu C., Jaliffa C., Marchant D., Dollfus H., Bonneau D., Munier F.L., Schorderet D.F., Levin A.V., Héon E., Sutherland J., Lacombe D., Said E., Mezer E., Kaplan J., Dufier J.L., Marsac C., Menasche M., Abitbol M.
ISSN
1471-2350
Statut éditorial
Publié
Date de publication
2006
Peer-reviewed
Oui
Volume
7
Pages
41
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Résumé
BACKGROUND: Ocular albinism type 1 (OA1) is an X-linked ocular disorder characterized by a severe reduction in visual acuity, nystagmus, hypopigmentation of the retinal pigmented epithelium, foveal hypoplasia, macromelanosomes in pigmented skin and eye cells, and misrouting of the optical tracts. This disease is primarily caused by mutations in the OA1 gene. METHODS: The ophthalmologic phenotype of the patients and their family members was characterized. We screened for mutations in the OA1 gene by direct sequencing of the nine PCR-amplified exons, and for genomic deletions by PCR-amplification of large DNA fragments. RESULTS: We sequenced the nine exons of the OA1 gene in 72 individuals and found ten different mutations in seven unrelated families and three sporadic cases. The ten mutations include an amino acid substitution and a premature stop codon previously reported by our team, and eight previously unidentified mutations: three amino acid substitutions, a duplication, a deletion, an insertion and two splice-site mutations. The use of a novel Taq polymerase enabled us to amplify large genomic fragments covering the OA1 gene. and to detect very likely six distinct large deletions. Furthermore, we were able to confirm that there was no deletion in twenty one patients where no mutation had been found. CONCLUSION: The identified mutations affect highly conserved amino acids, cause frameshifts or alternative splicing, thus affecting folding of the OA1 G protein coupled receptor, interactions of OA1 with its G protein and/or binding with its ligand.
Mots-clé
Albinism, Ocular, Amino Acid Sequence, DNA Mutational Analysis, Eye Proteins, Female, Humans, Male, Membrane Glycoproteins, Molecular Sequence Data, Mutation, Pedigree, Point Mutation, RNA Splice Sites, Sequence Deletion
Pubmed
Web of science
Open Access
Oui
Création de la notice
28/01/2008 13:58
Dernière modification de la notice
09/05/2019 0:49
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