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NM_015046.7(SETX):c.5927T>G (p.Leu1976Arg) AND Spinocerebellar ataxia autosomal recessive 1

Significance: Pathogenic
ClinVar: RCV000002382

Variant: NM_015046.7(SETX):c.5927T>G (p.Leu1976Arg)

Type: Variant
Allele: NM_015046.7(SETX):c.5927T>G (p.Leu1976Arg) 17331
Gene:
Type: single nucleotide variant
Location: Chr9: 132296909 - assembly GRCh38
Chr9: 135172296 - assembly GRCh37
References: dbSNP: 121434379
OMIM: 608465.0009
UniProtKB: Q7Z333#VAR_072588

Condition

Disease: Spinocerebellar ataxia autosomal recessive 1

Citations

    In affected members of 7 unrelated French Canadian families with autosomal recessive spinocerebellar ataxia with axonal neuropathy-2 (SCAN2; 606002), Duquette et al. (2005) identified a homozygous 5927T-G transversion in the SETX gene, resulting in a leu1976-to-arg (L1976R) substitution in the helicase domain of the protein. Affected members from 3 additional families had the L1986R mutation in compound heterozygosity with another disease-causing SETX mutation. The carrier rate for the L1986R mutation was estimated at 3.5% for Quebecois of Anglo-Norman descent and 2.1% in the French Canadian population of Gaspesie. All patients had a similar phenotype characterized by progressive ataxia, distal amyotrophy, and sensory impairment, but without oculomotor apraxia as strictly defined.
PMID:15732101
    In a patient with SCAN2, Fogel and Perlman (2006) identified compound heterozygosity for 2 mutations in the SETX gene: L1976R and L1977F (608465.0012).
PMID:17159128