Variant "MBNL1:c.-795C>T"
Search result: 1 record
Variant information
Gene:
MBNL1 
Variant:
MBNL1:c.-795C>T 
Genomic location:
chr3:151986262(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_001314057.1:c.-795C>T
protein_coding NM_021038.4:c.-1409C>T
protein_coding NM_207292.2:c.-1409C>T
pseudogene NR_027038.1:n.799G>A
pseudogene NR_027037.1:n.788G>A
dbSNP ID:
rs17433672  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered severity(1)  
Detail：
  • Target disease:
    Myotonic Dystrophy Type 1 (DOID_11722)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    P=0.020 
    Effect:
    The association of several genetic variants of the MBNL1 gene with DM1 or with the severity of the disease.
    Reference:
    PMID23161457
    Title:
    MBNL1 gene variants as modifiers of disease severity in myotonic dystrophy type 1.
    Species studied:
    Human
    Abstract:
    Myotonic dystrophy type 1 (DM1) is a multisystemic autosomal dominant disorder characterized by a highly variable phenotype and caused by an unstable CTG repeat expansion in the 3' untranslated region of the dystrophia myotonica protein kinase (DMPK) gene. Longer CTG repeat expansions often correlate with an anticipated age at onset and CTG repeat number may account for 45-60 % of the variance in disease severity. In order to search for candidate genes that could act as modifiers of disease severity, we studied the association between Muscleblind-like protein-1 (MBNL1) gene polymorphisms and the DM1 phenotype. In a group of 301 patients diagnosed with DM1 based on clinical symptoms, diagnosis was confirmed by molecular analysis of the DMPK gene. Patients were divided into four subtypes. The first subtype corresponded to asymptomatic patients or those with a mild phenotype, the second included those with a classic phenotype, the third concerned childhood onset, and the fourth corresponded to the congenital form of DM1. Three SNPs located in the MBNL1 gene promoter, rs323622, rs17283597, and rs17433672, were studied. Case-control analysis revealed that allele frequencies for the latter two were significantly associated with DM1 (p = 0.037 and p = 0.020). Multivariate linear regression analysis using phenotype as the dependent variable demonstrated that the TT genotype of the third SNP, rs323622, was associated with a more severe phenotype (p = 0.0034) and accounted for 1.88 % of the variance in disease severity. We report the association of several genetic variants of the MBNL1 gene with DM1 or with the severity of the disease.