Frasier syndrome

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.

Pathogenesis

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]

Systematic

Glomerulosclerosis
	Familial partial lipodystrophy type 2
	Focal, segmental glomerulosclerosis (FSGS)
	Frasier syndrome
		WT1
	Glycogen storage disease 1A
	Norum disease

References:

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)