The Frasier syndrome is an autosomal dominant disorder. It's clinical features comprise progessive renal disease and male pseudohermaphroditism. The reason for this disorder is a heterozygous germline mutation affecting one of the four splice variants of the WT1 gene.
The disease is caused by a splice mutation an alternative splice site in intron 9. This leads to domination of a the splice variant without an additional 3 amino acids KTS between the third and fourth zinc finger. The disturbed KTS+/+ ratio is responsible for the phenotype.[Error: Macro 'ref' doesn't exist]
Glomerulosclerosis | ||||
Familial partial lipodystrophy type 2 | ||||
Focal, segmental glomerulosclerosis (FSGS) | ||||
Frasier syndrome | ||||
WT1 | ||||
Glycogen storage disease 1A | ||||
Norum disease | ||||
1. |
Barbaux S et al. (1997) Donor splice-site mutations in WT1 are responsible for Frasier syndrome. |
2. |
Klamt B et al. (1998) Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms. |
3. |
OMIM.ORG article Omim 136680 |
4. |
Orphanet article Orphanet ID 347 |
5. |
Wikipedia article Wikipedia EN (Frasier_syndrome) |