James S Friedman, Joseph W Ray, Naushin Waseem, Kory Johnson, Matthew J Brooks, Therése Hugosson, Debra Breuer, Kari E Branham, Daniel S Krauth, Sara J Bowne, Lori S Sullivan, Vesna Ponjavic, Lotta Gränse, Ritu Khanna, Edward H Trager, Linn M Gieser, Dianna Hughbanks-Wheaton, Radu I Cojocaru, Noor M Ghiasvand, Christina F Chakarova, Magnus Abrahamson, Harald H H Göring, Andrew R Webster, David G Birch, Goncalo R Abecasis, Yang Fann, Shomi S Bhattacharya, Stephen P Daiger, John R Heckenlively, Sten Andréasson, Anand Swaroop
Retinitis pigmentosa (RP) refers to a genetically heterogeneous group of progressive neurodegenerative diseases that result in dysfunction and/or death of rod and cone photoreceptors in the retina. So far, 18 genes have been identified for autosomal-dominant (ad) RP. Here, we describe an adRP locus (RP42) at chromosome 7p15 through linkage analysis in a six-generation Scandinavian family and identify a disease-causing mutation, c.449G-->A (p.S150N), in exon 6 of the KLHL7 gene. Mutation screening of KLHL7 in 502 retinopathy probands has revealed three different missense mutations in six independent families...
June 2009: American Journal of Human Genetics