Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.

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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.

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3.

OMIM.ORG article

Omim 136680 [^]
4.

Orphanet article

Orphanet ID 347 [^]
5.

Wikipedia article

Wikipedia EN (Frasier_syndrome) [^]
Update: May 9, 2019