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 ?
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.
The past year has seen the remarkable story of the foundation's intervention on behalf of eight-year-old Hussein Balhas, a Lebanese boy born with Frasier Syndrome who is now receiving treatment and extensive reconstructive surgery in the U.