@article {410366,
	title = {Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestry.},
	journal = {Genet Med},
	volume = {17},
	number = {4},
	year = {2015},
	month = {2015 Apr},
	pages = {285-90},
	abstract = {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.},
	issn = {1530-0366},
	doi = {10.1038/gim.2014.132},
	author = {Venturini, Giulia and Koskiniemi-Kuendig, Hanna and Harper, Shyana and Berson, Eliot L and Rivolta, Carlo}
}
