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

Susanne Kohl, Balazs Varsanyi, Gesine Abadin Antunes, Britta Baumann, Carel B. Hoyng, Herbert Jägle, Thomas Rosenberg, Ulrich Kellner, Birgit Lorenz, Roberto Salati, Bernhard Jurklies, Agnes Farkas, Sten Andreasson, Richard G. Weleber, Samuel G. Jacobson, Günther Rudolph, Claudio Castellan, Helene Dollfus, Eric Legius, Mario AnastasiPierre Bitoun, Dorit Lev, Paul A. Sieving, Francis L. Munier, Eberhart Zrenner, Lindsay T. Sharpe, Frans P.M. Cremers, Bernd Wissinger

Research output: Contribution to journalArticle

151 Scopus citations

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 1bp 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.

Original languageEnglish (US)
Pages (from-to)302-308
Number of pages7
JournalEuropean Journal of Human Genetics
Volume13
Issue number3
DOIs
StatePublished - Mar 2005

Keywords

  • ACHM3 locus
  • Achromatopsia
  • CNGB3 mutations
  • Cyclic nucleotide-gated channel
  • Rod monochromacy
  • Total colorblindness

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Kohl, S., Varsanyi, B., Antunes, G. A., Baumann, B., Hoyng, C. B., Jägle, 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., ... Wissinger, B. (2005). CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. European Journal of Human Genetics, 13(3), 302-308. https://doi.org/10.1038/sj.ejhg.5201269