Forskning
Udskriv Udskriv
Switch language
Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Balanced translocation in a patient with abortus habitualis and normal karyotype

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer

Bardet-Biedl syndrome (BBS) is an autosomal recessive disease characterized by retinal dystrophy, polydactyly, obesity, learning disabilities, renal involvement, and male hypogenitalism. BBS is genetically heterogeneous with mutations of 14 genes, accounting for approximately 70% of cases. Triallelic inheritance has been suggested in about 5% of cases. Forty-nine unrelated BBS patients were screened for mutations by DHPLC analysis in BBS1, BBS2, BBS4, BBS6/MKKS, BBS10, and BBS12. The selected genes either account for more than 5% of the mutational load or are commonly reported in triallelic inheritance. Eight patients with only one or no BBS mutation were further investigated by single nucleotide polymorphism (SNP) analysis. In total, mutations were detected in 44 patients. Twenty percent had two mutations in BBS1, 18% in BBS2, 4% in BBS9, 43% in BBS10, and 2% in BBS12. Five patients were heterozygous for a sequence variation in BBS6/MKKS. We found eight patients with three sequence variations in two genes, which could be explained by triallelic inheritance, by the prevalence of heterozygous carriers or the third sequence variations representing rare polymorphisms. All changes found in a second BBS gene were amino acid substitutions. Genotype-phenotype correlations suggest a milder phenotype for BBS1 compared to BBS2 and BBS10, which we ascribe to the hypomorphic p.Met390Arg-mutation.

OriginalsprogEngelsk
TidsskriftHuman Mutation
Vol/bind31
Udgave nummer4
Sider (fra-til)429-36
Antal sider8
ISSN1059-7794
DOI
StatusUdgivet - apr. 2010

ID: 46200667