G2Cdb::Human Disease report

Disease id
D00000238
Name
Long QT syndrome
Nervous system disease
no

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00000031 HRAS
v-Ha-ras Harvey rat sarcoma viral oncogene homolog
Y (8751140) Single nucleotide polymorphism (SNP) N
G00000031 HRAS
v-Ha-ras Harvey rat sarcoma viral oncogene homolog
Y (8751140) Insertion/deletion (I/D) N

References

  • Molecular analysis at the Harvey Ras-1 gene in patients with long QT syndrome.

    Schulze-Bahr E, Haverkamp W, Wiebusch H, Schulte H, Hördt M, Borggrefe M, Breithardt G, Assmann G and Funke H

    Medizinische Klinik und Poliklinik, Westälische Wilhelms-Universität Münster, Germany.

    Patients with long QT syndrome (LQTS; MIM 1921500) frequently suffer from syncope and are threatened by sudden cardiac death due to ventricular arrhythmias, typically of the torsade de pointes type. Initial progress in revealing the molecular basis of the disease was made by the observation of genetic linkage of the disease locus to the Harvey Ras-1 gene (HRAS 1) on chromosome 11p15.5. More recently loci on chromosomes 3, 4, and 7 have also been found to be linked to LQTS, thus demonstrating heterogeneity in the causes for this disease. The present study performed sequence analysis on the HRAS 1 gene in patients with congenital and acquired LQTS to determine the frequency of HRAS 1 mutations in patients with this disease. In neither group were no mutations identified in the coding regions or in the splice donor and acceptor sites. Alleles characterized by a T to C transition in exon 1 and an insertion/deletion polymorphism upstream of exon 1 showed no significant difference in their frequencies between LQTS patients and normal controls. No quantitative influence of the such characterized genotypes on the QT duration was observed. These results demonstrate that structural mutations in the HRAS 1 gene are not a frequent cause of LQTS. Also, since there was no association of different alleles at the HRAS 1 locus with changes in QT duration, it appears unlikely that this gene is a major contributor to this disease.

    Journal of molecular medicine (Berlin, Germany) 1995;73;11;565-9

Literature (1)

Pubmed - human_disease

  • Molecular analysis at the Harvey Ras-1 gene in patients with long QT syndrome.

    Schulze-Bahr E, Haverkamp W, Wiebusch H, Schulte H, Hördt M, Borggrefe M, Breithardt G, Assmann G and Funke H

    Medizinische Klinik und Poliklinik, Westälische Wilhelms-Universität Münster, Germany.

    Patients with long QT syndrome (LQTS; MIM 1921500) frequently suffer from syncope and are threatened by sudden cardiac death due to ventricular arrhythmias, typically of the torsade de pointes type. Initial progress in revealing the molecular basis of the disease was made by the observation of genetic linkage of the disease locus to the Harvey Ras-1 gene (HRAS 1) on chromosome 11p15.5. More recently loci on chromosomes 3, 4, and 7 have also been found to be linked to LQTS, thus demonstrating heterogeneity in the causes for this disease. The present study performed sequence analysis on the HRAS 1 gene in patients with congenital and acquired LQTS to determine the frequency of HRAS 1 mutations in patients with this disease. In neither group were no mutations identified in the coding regions or in the splice donor and acceptor sites. Alleles characterized by a T to C transition in exon 1 and an insertion/deletion polymorphism upstream of exon 1 showed no significant difference in their frequencies between LQTS patients and normal controls. No quantitative influence of the such characterized genotypes on the QT duration was observed. These results demonstrate that structural mutations in the HRAS 1 gene are not a frequent cause of LQTS. Also, since there was no association of different alleles at the HRAS 1 locus with changes in QT duration, it appears unlikely that this gene is a major contributor to this disease.

    Journal of molecular medicine (Berlin, Germany) 1995;73;11;565-9

© 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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