G2Cdb::Allele report

Mutation type
Du

Altered genes (1)

Gene Symbol Species Description
G00000031 HRAS Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog

Diseases (1)

Disease Description Nervous effect
D00000302 Beckwith-Wiedemann syndrome N

Literature (1)

Pubmed - human_disease

  • Duplication of HRAS1, INS, and IGF2 is not a common event in Beckwith-Wiedemann syndrome.

    Henry I, Jeanpierre M, Barichard F, Serre JL, Mallet J, Turleau C, de Grouchy J and Junien C

    INSERM U 73, Paris.

    A few cases of Beckwith-Wiedemann syndrome (BWS) have in common a duplication of 11p15. Among the genes located in 11p15, c-Ha-ras 1 (HRAS1), insulin (INS), and insulin-like growth factor II (IGF2) may account for the clinical features and the increased risk for malignancy. Using eight 11p15 markers including HRAS1, INS and IGF2 we have studied eight sporadic and hereditary cases of BWS whether or not associated with a nephroblastoma. By gene dosage determination and family studies, we have shown the following: the eight patients examined had an apparent diploid representation of all of the eight markers studied, thus indicating that a microduplication of these markers or of the region characterized by these markers is not a common event in BWS; in a family with three affected sibs the genes for HRAS1 and INS/IGF2 did not cosegregate with BWS and therefore may not participate in the pathogenic processes here observed.

    Annales de genetique 1988;31;4;216-20

© 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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