Gene "SCNN1B"
Found 2 records
Gene information
Gene symbol:
SCNN1B
See related:
Ensembl: ENSG00000168447, Gene ID: 6338
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
2 
Disorder:
2 
Vriant:
2 
Reference:
2 
Effect type:
Expressivity(1) ,Pleiotropy(1)  
Modifier effect:
Altered phenotype(1) ,Risk factor(1)  
Details：
  • Variant 1:
    SCNN1B:variant
    Gene:
    SCNN1B
    Genomic location:
    dbSNP ID:
    Target disease:
    Cystic fibrosis(DOID_1485)
    Effect type:
    Pleiotropy 
    Modifier effect:
    Altered phenotype 
    Evidence:
    From review article 
    Effect:
    Lung disease
    Reference:
    PMID25053892
    Title:
    Disease-modifying genes and monogenic disorders: experience in cystic fibrosis.
    Species studied:
    Human
    Abstract:
    The mechanisms responsible for the determination of phenotypes are still not well understood; however, it has become apparent that modifier genes must play a considerable role in the phenotypic heterogeneity of Mendelian disorders. Significant advances in genetic technologies and molecular medicine allow huge amounts of information to be generated from individual samples within a reasonable time frame. This review focuses on the role of modifier genes using the example of cystic fibrosis, the most common lethal autosomal recessive disorder in the white population, and discusses the advantages and limitations of candidate gene approaches versus genome-wide association studies. Moreover, the implications of modifier gene research for other monogenic disorders, as well as its significance for diagnostic, prognostic, and therapeutic approaches are summarized. Increasing insight into modifying mechanisms opens up new perspectives, dispelling the idea of genetic disorders being caused by one single gene.
  • Variant 2:
    SCNN1B:rs781393829
    Gene:
    SCNN1B
    Genomic location:
    dbSNP ID:
    rs781393829
    Target disease:
    Dent disease(DOID_0050699)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    Assessment of genotype–phenotype associations 
    Effect:
    Modify the phenotype
    Reference:
    PMID29058463
    Title:
    Genetic Analysis of Dent's Disease and Functional Research of CLCN5 Mutations.
    Species studied:
    Human
    Abstract:
    Dent's disease is an X-linked inherited renal disease. Patients with Dent's disease often carry mutations in genes encoding the Cl-/H+ exchanger ClC-5 and/or inositol polyphosphate 5-phosphatase (OCRL1). However, the mutations involved and the biochemical effects of these mutations are not fully understood. To characterize genetic changes in Dent's disease patients, in this study, samples from nine Chinese patients were subjected to genetic analysis. Among the nine patients, six were classified as having Dent-1 disease, one had Dent-2 disease, and two could not be classified. Expression of ClC-5 carrying Dent's disease-associated mutations in HEK293 cells had varying effects: (1) no detectable expression of mutant protein; (2) retention of a truncated protein in the endoplasmic reticulum; or (3) diminished protein expression with normal distribution in early endosomes. Dent's disease patients showed genetic heterogeneity and over 20% of patients did not have CLCN5 or OCRL1 mutations, suggesting the existence of other genetic factors. Using next-generation sequencing, we identified possible modifier genes that have not been previously reported in Dent's disease patients. Heterozygous variants in CFTR, SCNN1A, and SCNN1B genes associated with cystic fibrosis (CF) or CF-like disease were detected in four of our nine patients. These results may form the basis for future characterization of Dent's disease and genetic