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

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

204 Scopus citations


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
Pages (from-to)302-308
Number of pages7
JournalEuropean Journal of Human Genetics
Issue number3
StatePublished - Mar 2005
Externally publishedYes


FundersFunder number
Schilling Stiftung1189/6-1, SFB430/A5
National Institute on Deafness and Other Communication DisordersZIADC000065
Foundation Fighting Blindness
Deutsche Forschungsgemeinschaft32-065250.01
Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen ForschungDFGLo457,1–3
Bundesministerium für Bildung und Forschung01 KS 9602
Interdisziplinäres Zentrum für Klinische Forschung, Universitätsklinikum Würzburg


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


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