frasier syndromes การใช้

• Frasier syndrome is inherited in an autosomal dominant fashion, indicating the need for only one mutated allele in a cell to lead to expression of the disease.
• Frasier syndrome presents at birth with male pseudohermaphroditism ( the external genitalia have a female appearance despite an XY genotype ), streak gonads and progressive glomerulonephropathy ( focal segmental glomerulosclerosis ).
• The glomerulonephropathy presents later than in Denys-Drash syndrome, and the tumour risk phenotype is different-whilst DDS is associated with Wilms'tumour, Frasier syndrome is associated with gonadoblastoma.
• Through alternative splicing, a specific ratio of the two isoforms normally exists, though the mutation in the intron 9 splice site severely lowers levels of the + KTS isoform; this leads to Frasier syndrome.
• Mutations responsible for Frasier syndrome predominantly occur in intron 9 of the " WT1 " gene, specifically nucleotide substitutions that influence an S between the third and fourth " WT1 " zinc fingers.
• Differing from the similar Denys-Drash syndrome, where a mutated form of the WT1 protein exists, Frasier syndrome expression works solely on the existence of a changed ratio of KTS isoforms : normal WT1 proteins including the KTS site ( + KTS ), and mutated, shortened proteins lacking the KTS site (  KTS ).