CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
(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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https://lup.lub.lu.se/record/253729
- author
- organization
- publishing date
- 2005
- type
- Contribution to journal
- publication status
- published
- subject
- 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
- pmid:15657609
- ISSN
- 1476-5438
- DOI
- 10.1038/sj.ejhg.5201269
- language
- English
- LU publication?
- yes
- id
- 3b360761-c902-47f7-8dc1-bbb0862905df (old id 253729)
- date added to LUP
- 2016-04-01 12:35:32
- date last changed
- 2022-03-29 02:57:39
@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 (<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}}, keywords = {{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}}, doi = {{10.1038/sj.ejhg.5201269}}, volume = {{13}}, year = {{2005}}, }