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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.

external link
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.

external link
3.

OMIM.ORG article

Omim 136680 external link
4.

Orphanet article

Orphanet ID 347 external link
5.

Wikipedia article

Wikipedia EN (Frasier_syndrome) external link
Update: Aug. 14, 2020
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