Ontology highlight
ABSTRACT:
SUBMITTER: Zuchner S
PROVIDER: S-EPMC3035708 | biostudies-literature | 2011 Feb
REPOSITORIES: biostudies-literature
Züchner Stephan S Dallman Julia J Wen Rong R Beecham Gary G Naj Adam A Farooq Amjad A Kohli Martin A MA Whitehead Patrice L PL Hulme William W Konidari Ioanna I Edwards Yvonne J K YJ Cai Guiqing G Peter Inga I Seo David D Buxbaum Joseph D JD Haines Jonathan L JL Blanton Susan S Young Juan J Alfonso Eduardo E Vance Jeffery M JM Lam Byron L BL Peričak-Vance Margaret A MA
American journal of human genetics 20110203 2
Increasingly, mutations in genes causing Mendelian disease will be supported by individual and small families only; however, exome sequencing studies have thus far focused on syndromic phenotypes characterized by low locus heterogeneity. In contrast, retinitis pigmentosa (RP) is caused by >50 known genes, which still explain only half of the clinical cases. In a single, one-generation, nonsyndromic RP family, we have identified a gene, dehydrodolichol diphosphate synthase (DHDDS), demonstrating ...[more]