CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
- Kohl, S.
- Varsanyi, B.
- Antunes, G.A.
- Baumann, B.
- Hoyng, C.B.
- Jagle, H.
- Rosenberg, T.
- Kellner, U.
- Lorenz, B.
- Salati, R.
- Jurklies, B.
- Farkas, A.
- Andreasson, S.
- Weleber, R.G.
- Jacobson, S.G.
- Rudolph, G.
- Castellan, C.
- Dollfus, H.
- Legius, E.
- Anastasi, M.
- Bitoun, P.
- Lev, D.
- Sieving, P.A.
- Munier, F.L.
- Zrenner, E.
- Sharpe, L.T.
- Cremers, F.P.M.
- Wissinger, B.
DOIAbstract
Contains fulltext : 47591.pdf (publisher's version ) (Closed access)Achromatopsia is a congenital, autosomal recessively inherited disorder characterized by a lack of color discrimination, low visual acuity (<0.2), photophobia, and nystagmus. Mutations in the genes for CNGA3, CNGB3, and GNAT2 have been associated with this disorder. Here, we analyzed the spectrum and prevalence of CNGB3 gene mutations in a cohort of 341 independent patients with achromatopsia. In 163 patients, CNGB3 mutations could be identified. A total of 105 achromats carried apparent homozygous mutations, 44 were compound (double) heterozygotes, and 14 patients had only a single mutant allele. The derived CNGB3 mutation spectrum comprises 28 different ...
Add to ORKG