Frasier syndrome

Frasier syndrome

A slowly progressing autosomal dominant nephropathy (OMIM:136680) characterised by progressive renal failure in adolescence or early adulthood due to glomerulosclerosis and male pseudohermaphroditism (overlaps with Denys-Drash syndrome, without Wilms tumor).

Molecular pathology
Defects of WTI, which encodes a transcription factor that plays an essential role in the normal development of the urogenital system, cause Frasier syndrome.
References in periodicals archive ?
in 2009 [20] identified the first Polish patient with Frasier syndrome caused by a WT1 splice-site mutation (c.
Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms.
A female infant with Frasier syndrome showing splice site mutation in Wilms' tumor gene (WT1) intron 9.
109,111) Patients with Frasier syndrome (112) with an XY karyotype present with slowly progressing focal and segmental glomerulosclerosis, normal female external genitalia and fallopian tubes, a small uterus, and streak gonads with a high and early risk113 of developing gonadoblastoma.
Donor splice-site mutations in WT1 are responsible for Frasier syndrome.