Kohl, Susanne 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, Birgit and Salati, R. and Jurklies, B. and Farkas, A. and Andreasson, S. 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, Bernd (2005) CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. EUROPEAN JOURNAL OF HUMAN GENETICS, 13 (3). pp. 302-308. ISSN 1018-4813,
Full text not available from this repository. (Request a copy)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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | GATED CATION CHANNEL; ALPHA-SUBUNIT; CONE DEGENERATION; TOTAL COLOURBLINDNESS; GENE; GNAT2; PHOTORECEPTORS; DYSTROPHY; CLONING; LOCUS; CNGB3 mutations; ACHM3 locus; achromatopsia; rod monochromacy; total colorblindness; cyclic nucleotide-gated channel |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Abteilung für Pädiatrische Ophthalmologie, Strabismologie und Ophthalmogenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 18 May 2021 10:41 |
| Last Modified: | 18 May 2021 10:41 |
| URI: | https://pred.uni-regensburg.de/id/eprint/36403 |
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