Novel GUCA1A mutation identified in a Chinese family with cone-rod dystrophy

Abstract

Ten mutations in the guanylate cyclase activator 1A (GUCA1A) have been previously identified and reported in patients with retinal degeneration, including patients from 12 families with cone-rod dystrophy (CORD) and in an isolated patient with retinitis pigmentosa (RP). In this study, the coding exons and adjacent regions of GUCA1A were evaluated in 130 probands with CORD from 130 unrelated Chinese families using Sanger sequencing. A novel heterozygous c.464A>C (p.Glu155Ala) mutation was detected in a proband from a large family. The mutation presented in all nine patients examined in that family, but it was absent in six unaffected family members and 192 normal controls. All the nine patients in that family expressed typical CORD in eight cases and atypical CORD in one case. The results of this study suggested that the GUCA1A mutation only contributes to a small portion of CORD in people of Chinese descent.