SwePub
Sök i LIBRIS databas

  Extended search

WFRF:(Anastasi E)
 

Search: WFRF:(Anastasi E) > (2005-2009) > CNGB3 mutations acc...

  • 1 of 1
  • Previous record
  • Next record
  •    To hitlist

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

Kohl, S (author)
Varsanyi, B (author)
Antunes, G A (author)
show more...
Baumann, B (author)
Hoyng, C B (author)
Jagle, H (author)
Rosenberg, T (author)
Kellner, U (author)
Lorenz, B (author)
Salati, R (author)
Jurklies, B (author)
Farkas, A (author)
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
Weleber, R G (author)
Jacobson, S G (author)
Rudolph, G (author)
Castellan, C (author)
Dollfus, H (author)
Legius, E (author)
Anastasi, M (author)
Bitoun, P (author)
Lev, D (author)
Sieving, P A (author)
Munier, F L (author)
Zrenner, E (author)
Sharpe, L T (author)
Cremers, F P M (author)
Wissinger, B (author)
show less...
 (creator_code:org_t)
2004-12-15
2005
English.
In: European Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1476-5438 .- 1018-4813. ; 13:3, s. 302-308
  • Journal article (peer-reviewed)
Abstract Subject headings
Close  
  • 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)

Find in a library

To the university's database

  • 1 of 1
  • Previous record
  • Next record
  •    To hitlist

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Close

Copy and save the link in order to return to this view