Ontology highlight
ABSTRACT:
SUBMITTER: Coppieters F
PROVIDER: S-EPMC1950922 | biostudies-other | 2007 Jul
REPOSITORIES: biostudies-other
Coppieters Frauke F Leroy Bart P BP Beysen Diane D Hellemans Jan J De Bosscher Karolien K Haegeman Guy G Robberecht Kirsten K Wuyts Wim W Coucke Paul J PJ De Baere Elfride E
American journal of human genetics 20070524 1
"Autosomal dominant retinitis pigmentosa" (adRP) refers to a genetically heterogeneous group of retinal dystrophies, in which 54% of all cases can be attributed to 17 disease loci. Here, we describe the localization and identification of the photoreceptor cell-specific nuclear receptor gene NR2E3 as a novel disease locus and gene for adRP. A heterozygous mutation c.166G-->A (p.Gly56Arg) was identified in the first zinc finger of NR2E3 in a large Belgian family affected with adRP. Overall, this m ...[more]