G2Cdb::Human Disease report

Disease id
D00000225
Name
Retinitis pigmentosa (autosomal dominant)
Nervous system disease
yes

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00001459 GNB1
guanine nucleotide binding protein (G protein), beta polypeptide 1
Y (17167406) Polymorphism (P) N

References

  • A screen for mutations in the transducin gene GNB1 in patients with autosomal dominant retinitis pigmentosa.

    Mylvaganam GH, McGee TL, Berson EL and Dryja TP

    Ocular Molecular Genetics Institute and the Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA.

    Purpose: To search for mutations in the GNB1 gene (coding for the transducin beta1-subunit protein) in patients with autosomal dominant retinitis pigmentosa.

    Methods: We screened 185 unrelated patients with autosomal dominant retinitis pigmentosa (ADRP) using direct genomic sequencing of the three non-coding exons and 9 coding exons, along with immediately flanking intron DNA.

    Results: We found 2 polymorphisms, one in intron 1 with a minor allele frequency of 24%, and one in intron 6 with a minor allele frequency of 12% among the 185 patients. Two rare variants (minor allele frequency <1%) were found in the 3' untranslated region of exon 12. No changes were found in the open reading frame (exons 3-11) or in the noncoding exons 1 and 2.

    Conclusions: No likely pathogenic GNB1 mutations have been found in any of 185 unrelated patients with ADRP. This result would be expected if hemizygosity for GNB1 does not result in ADRP or is a rare cause of ADRP.

    Funded by: NEI NIH HHS: EY00169, EY08683, P30 EY014104

    Molecular vision 2006;12;1496-8

Literature (1)

Pubmed - other

  • A screen for mutations in the transducin gene GNB1 in patients with autosomal dominant retinitis pigmentosa.

    Mylvaganam GH, McGee TL, Berson EL and Dryja TP

    Ocular Molecular Genetics Institute and the Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA.

    Purpose: To search for mutations in the GNB1 gene (coding for the transducin beta1-subunit protein) in patients with autosomal dominant retinitis pigmentosa.

    Methods: We screened 185 unrelated patients with autosomal dominant retinitis pigmentosa (ADRP) using direct genomic sequencing of the three non-coding exons and 9 coding exons, along with immediately flanking intron DNA.

    Results: We found 2 polymorphisms, one in intron 1 with a minor allele frequency of 24%, and one in intron 6 with a minor allele frequency of 12% among the 185 patients. Two rare variants (minor allele frequency <1%) were found in the 3' untranslated region of exon 12. No changes were found in the open reading frame (exons 3-11) or in the noncoding exons 1 and 2.

    Conclusions: No likely pathogenic GNB1 mutations have been found in any of 185 unrelated patients with ADRP. This result would be expected if hemizygosity for GNB1 does not result in ADRP or is a rare cause of ADRP.

    Funded by: NEI NIH HHS: EY00169, EY08683, P30 EY014104

    Molecular vision 2006;12;1496-8

© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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