Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestry.
Fiche du document
- doi: 10.1038/gim.2014.132
- issn: 1098-3600
Ce document est lié à :
info:eu-repo/semantics/altIdentifier/doi/10.1038/gim.2014.132
Ce document est lié à :
info:eu-repo/semantics/altIdentifier/pmid/25255364
Ce document est lié à :
info:eu-repo/semantics/altIdentifier/eissn/1530-0366
Ce document est lié à :
info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_7177E3EE383F2
info:eu-repo/semantics/openAccess , Copying allowed only for non-profit organizations , https://serval.unil.ch/disclaimer
Sujets proches
Inheritance (Biology) Pangenesis Ancestry Descent Genealogy--Handbooks, manuals, etc Genealogical research Family trees Genealogy--Sources Genealogy--History Family history (Genealogy) Genealogy--Research Ancestry Descent Pedigrees Genealogy--Methodology Biography--Ancestry Relations with family Biography--Descendants Biography--Family AncestryCiter ce document
G. Venturini et al., « Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestry. », Serveur académique Lausannois, ID : 10.1038/gim.2014.132
Métriques
Partage / Export
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.