Gene "FAH"
Found 1 record
Gene information
Gene symbol:
FAH
See related:
Ensembl: ENSG00000103876, Gene ID: 2184
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
1 
Disorder:
1 
Vriant:
1 
Reference:
1 
Effect type:
Penetrance(1)  
Modifier effect:
Altered incidence(1)  
Detail：
  • Variant 1:
    FAH:rs143326948
    Gene:
    FAH
    Genomic location:
    dbSNP ID:
    rs143326948
    Target disease:
    Abnormal circulating tyrosine concentration(HP:0010917)
    Effect type:
    Penetrance 
    Modifier effect:
    Altered incidence 
    Evidence:
    Gene activity study 
    Effect:
    The splicing defect caused by the primary mutation is most likely suppressed by the new mutation due to improvement of the splicing site.
    Reference:
    PMID15759101
    Title:
    Tyrosinaemia type I--de novo mutation in liver tissue suppressing an inborn splicing defect
    Species studied:
    Human
    Abstract:
    Many patients with tyrosinaemia type 1 have a mosaic pattern of fumarylacetoacetase (FAH) immunopositive or immunonegative nodules in liver tissue. This phenomenon has been explained by a spontaneous reversion of the mutation in one allele to a normal genotype, but only a few nodules have been examined. We now report on a Norwegian patient, compound heterozygous for the mutations IVS12g(+5)-->a and G(1009-->)A, with liver mosaicism, but with an immunopositive nodule in which both primary mutations were intact. In the immunopositive hepatocytes of this nodule, genetic analyses showed a new mutation, C(1061-->)A, 6 bp upstream of the primary mutation IVS12g(+5)-->a in the FAH gene. The splicing defect caused by the primary mutation is most likely suppressed by the new mutation due to improvement of the splicing site. In the same liver we demonstrate another nodule of regenerating immunopositive tissue due to reversion of one of the primary mutations to a normal genotype. Together with the original cells this makes a triple mosaicism of hepatocytes with one, two or three point mutations in the FAH gene.