Ontology highlight
ABSTRACT:
SUBMITTER: Eiberg H
PROVIDER: S-EPMC2649014 | biostudies-literature | 2006 May
REPOSITORIES: biostudies-literature
Eiberg H H Hansen L L Kjer B B Hansen T T Pedersen O O Bille M M Rosenberg T T Tranebjaerg L L
Journal of medical genetics 20060501 5
Autosomal dominant optic atrophy (ADOA) is genetically heterogeneous, with OPA1 on 3q28 being the most prevalently mutated gene. Additional loci are OPA3, OPA4, and OPA5, located at 19q13.2, 18q12.2, and 22q12.1-q13.1, respectively. Mutations in the WFS1 gene, at 4p16.3, are associated with either optic atrophy (OA) as part of the autosomal recessive Wolfram syndrome or with autosomal dominant progressive low frequency sensorineural hearing loss (LFSNHL) without any ophthalmological abnormalitie ...[more]