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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 and Salati, R, et al. (2005) In European Journal of Human Genetics 13(3). p.302-308
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... (More)
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. (Less)
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keywords
total, rod monochromacy, achromatopsia, CNGB3 mutations, ACHM3 locus, colorblindness, cyclic nucleotide-gated channel
in
European Journal of Human Genetics
volume
13
issue
3
pages
302 - 308
publisher
Nature Publishing Group
external identifiers
  • wos:000227117100009
  • pmid:15657609
  • scopus:20144382218
ISSN
1476-5438
DOI
10.1038/sj.ejhg.5201269
language
English
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yes
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3b360761-c902-47f7-8dc1-bbb0862905df (old id 253729)
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2007-08-07 15:15:55
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2017-10-22 03:56:50
@article{3b360761-c902-47f7-8dc1-bbb0862905df,
  abstract     = {Achromatopsia is a congenital, autosomal recessively inherited disorder characterized by a lack of color discrimination, low visual acuity (&lt;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.},
  author       = {Kohl, S and Varsanyi, B and Antunes, G A and Baumann, B and Hoyng, C B and Jagle, H and Rosenberg, T and Kellner, U and Lorenz, B and Salati, R and Jurklies, B and Farkas, A and Andréasson, Sten and Weleber, R G and Jacobson, S G and Rudolph, G and Castellan, C and Dollfus, H and Legius, E and Anastasi, M and Bitoun, P and Lev, D and Sieving, P A and Munier, F L and Zrenner, E and Sharpe, L T and Cremers, F P M and Wissinger, B},
  issn         = {1476-5438},
  keyword      = {total,rod monochromacy,achromatopsia,CNGB3 mutations,ACHM3 locus,colorblindness,cyclic nucleotide-gated channel},
  language     = {eng},
  number       = {3},
  pages        = {302--308},
  publisher    = {Nature Publishing Group},
  series       = {European Journal of Human Genetics},
  title        = {CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia},
  url          = {http://dx.doi.org/10.1038/sj.ejhg.5201269},
  volume       = {13},
  year         = {2005},
}