Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestry.

Détails

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Etat: Public
Version: Final published version
ID Serval
serval:BIB_7177E3EE383F
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestry.
Périodique
Genetics In Medicine : Official Journal of the American College of Medical Genetics
Auteur⸱e⸱s
Venturini G., Koskiniemi-Kuendig H., Harper S., Berson E.L., Rivolta C.
ISSN
1530-0366 (Electronic)
ISSN-L
1098-3600
Statut éditorial
Publié
Date de publication
09/2015
Peer-reviewed
Oui
Volume
17
Numéro
4
Pages
285-290
Langue
anglais
Notes
Publication types: Journal Article
Publication Status: ppublish
Résumé
PURPOSE: Retinitis pigmentosa is a Mendelian disease with a very elevated genetic heterogeneity. Most mutations are responsible for less than 1% of cases, making molecular diagnosis a multigene screening procedure. In this study, we assessed whether direct testing of specific alleles could be a valuable screening approach in cases characterized by prevalent founder mutations.
METHODS: We screened 275 North American patients with recessive/isolate retinitis pigmentosa for two mutations: an Alu insertion in the MAK gene and the p.Lys42Glu missense in the DHDDS gene. All patients were unrelated; 35 reported Jewish ancestry and the remainder reported mixed ethnicity.
RESULTS: We identified the MAK and DHDDS mutations homozygously in only 2.1% and 0.8%, respectively, of patients of mixed ethnicity, but in 25.7% and 8.6%, respectively, of cases reporting Jewish ancestry. Haplotype analyses revealed that inheritance of the MAK mutation was attributable to a founder effect.
CONCLUSION: In contrast to most mutations associated with retinitis pigmentosa-which are, in general, extremely rare-the two alleles investigated here cause disease in approximately one-third of North American patients reporting Jewish ancestry. Therefore, their screening constitutes an alternative procedure to large-scale tests for patients belonging to this ethnic group, especially in time-sensitive situations.Genet Med 17 4, 285-290.
Pubmed
Web of science
Open Access
Oui
Création de la notice
15/02/2015 20:45
Dernière modification de la notice
20/08/2019 14:29
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