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CNGB3 mutations acc...
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
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Kohl, S (author)
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Varsanyi, B (author)
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Antunes, G A (author)
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Baumann, B (author)
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Hoyng, C B (author)
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Jagle, H (author)
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Rosenberg, T (author)
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Kellner, U (author)
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Lorenz, B (author)
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Salati, R (author)
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Jurklies, B (author)
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Farkas, A (author)
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- Andréasson, Sten (author)
- Lund University,Lunds universitet,Oftalmologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Ophthalmology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine
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Weleber, R G (author)
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Jacobson, S G (author)
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Rudolph, G (author)
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Castellan, C (author)
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Dollfus, H (author)
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Legius, E (author)
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Anastasi, M (author)
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Bitoun, P (author)
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Lev, D (author)
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Sieving, P A (author)
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Munier, F L (author)
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Zrenner, E (author)
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Sharpe, L T (author)
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Cremers, F P M (author)
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Wissinger, B (author)
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(creator_code:org_t)
- 2004-12-15
- 2005
- English.
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In: European Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1476-5438 .- 1018-4813. ; 13:3, s. 302-308
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http://dx.doi.org/10...
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https://www.nature.c...
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Abstract
Subject headings
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- total
- rod monochromacy
- achromatopsia
- CNGB3 mutations
- ACHM3 locus
- colorblindness
- cyclic nucleotide-gated channel
Publication and Content Type
- art (subject category)
- ref (subject category)
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To the university's database
- By the author/editor
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Kohl, S
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Varsanyi, B
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Antunes, G A
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Baumann, B
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Hoyng, C B
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Jagle, H
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show more...
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Rosenberg, T
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Kellner, U
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Lorenz, B
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Salati, R
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Jurklies, B
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Farkas, A
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Andréasson, Sten
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Weleber, R G
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Jacobson, S G
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Rudolph, G
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Castellan, C
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Dollfus, H
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Legius, E
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Anastasi, M
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Bitoun, P
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Lev, D
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Sieving, P A
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Munier, F L
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Zrenner, E
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Sharpe, L T
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Cremers, F P M
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Wissinger, B
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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European Journal ...
- By the university
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Lund University