[HTML][HTML] CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

S Kohl, B Varsanyi, GA Antunes, B Baumann… - European Journal of …, 2005 - nature.com
S Kohl, B Varsanyi, GA Antunes, B Baumann, CB Hoyng, H Jägle, T Rosenberg, U Kellner…
European Journal of Human Genetics, 2005nature.com
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 …
Abstract
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 mutations including 12 nonsense mutations, eight insertions and/or deletions, five putative splice site mutations, and three missense mutations. Thus, the majority of mutations in the CNGB3 gene result in significantly altered and/or truncated polypeptides. Several mutations were found recurrently, in particular a 1 bp deletion, c. 1148delC, which accounts for over 70% of all CNGB3 mutant alleles. In conclusion, mutations in the CNGB3 gene are responsible for approximately 50% of all patients with achromatopsia. This indicates that the CNGB3/ACHM3 locus on chromosome 8q21 is the major locus for achromatopsia in patients of European origin or descent.
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