Identifying mutations in Tunisian families with retinal dystrophy.

Détails

Ressource 1Télécharger: 27874104_BIB_53312B0D5052.pdf (1595.79 [Ko])
Etat: Public
Version: Final published version
ID Serval
serval:BIB_53312B0D5052
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Identifying mutations in Tunisian families with retinal dystrophy.
Périodique
Scientific reports
Auteur⸱e⸱s
Habibi I., Chebil A., Falfoul Y., Allaman-Pillet N., Kort F., Schorderet D.F., El Matri L.
ISSN
2045-2322 (Electronic)
ISSN-L
2045-2322
Statut éditorial
Publié
Date de publication
22/11/2016
Peer-reviewed
Oui
Volume
6
Pages
37455
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: epublish
Résumé
Retinal dystrophies (RD) are a rare genetic disorder with high genetic heterogeneity. This study aimed at identifying disease-causing variants in fifteen consanguineous Tunisian families. Full ophthalmic examination was performed. Index patients were subjected to IROme analysis or whole exome sequencing followed by homozygosity mapping. All detected variations were confirmed by direct Sanger sequencing. Mutation analysis in our patients revealed two compound heterozygous mutations p.(R91W);(V172D) in RPE65, and five novel homozygous mutations: p.R765C in CNGB1, p.H337R in PDE6B, splice site variant c.1129-2A > G and c.678_681delGAAG in FAM161A and c.1133 + 3_1133 + 6delAAGT in CERKL. The latter mutation impacts pre-mRNA splicing of CERKL. The other changes detected were six previously reported mutations in CNGB3 (p.R203*), ABCA4 (p.W782*), NR2E3 (p.R311Q), RPE65 (p.H182Y), PROM1 (c.1354dupT) and EYS (c.5928-2A > G). Segregation analysis in each family showed that all affected individuals were homozygotes and unaffected individuals were either heterozygote carriers or homozygous wild type allele. These results confirm the involvement of a large number of genes in RD in the Tunisian population.
Mots-clé
Adult, Base Sequence, Chromosome Segregation/genetics, Cohort Studies, DNA Mutational Analysis, Exons/genetics, Family, Female, Fundus Oculi, Genome, Human, Homozygote, Humans, Male, Mutation/genetics, Pedigree, RNA Splicing/genetics, RNA, Messenger/genetics, RNA, Messenger/metabolism, Retinal Dystrophies/genetics, Tunisia
Pubmed
Web of science
Open Access
Oui
Création de la notice
05/12/2016 22:12
Dernière modification de la notice
20/08/2019 15:08
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