Dominant optic atrophy mapped to chromosome 3q region

TLDR

The OPA1 gene responsible for dominant optic atrophy is located on chromosome 3q, near markers D3S1601 and D3S1265. The study examined 62 patients from three Danish families, followed up 30 of them, and analyzed 175 chromosomal markers in 118 family members to map the disease locus. The analysis revealed marked visual variability, strong linkage of OPA1 to markers D3S1601, D3S1262, D3S1265, and D3S1314 with a Lod score of 11.75, and estimated a minimum prevalence of 1:12,301, making DOA the most common hereditary optic atrophy.

Abstract

ABSTRACT Sixty‐two patients from three large Danish families with autosomal dominant optic atrophy were clinically examined, and retrospective follow‐up was made on 30 patients. We found great inter‐ and intrafamiliar variation in visual acuity and visual decline. Onehundred and seventy‐five chromosomal markers were analyzed in 118 family members. Linkage was demonstrated between the disease gene (OPA1) and the microsatellite markers D3S1314, D3S1262, D3S1265 and D3S1601, with the highest Lod score to D3S1601 Z = 11.75. All markers are located on chromosome 3q in the telomeric area, the most probable location for the OPA1 gene being D3S1601‐OPA1‐D3S1265. Using data from the Danish Family Register of Hereditary Eye Diseases, the minimum prevalence rate was estimated to 1:12.301, making DOA the most common hereditary optic atrophy.