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.

Mentioned in

hereditary proteinuria syndromes

References in periodicals archive

in 2009 [20] identified the first Polish patient with Frasier syndrome caused by a WT1 splice-site mutation (c.1432+sG>A), and Lipska et al.

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.

Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis--a single-centre experience

Donor splice-site mutations in WT1 are responsible for Frasier syndrome. Nat Genet.

Expanding the clinical spectrum of Frasier syndrome. Pediatr Dev Pathol.

Selected genetic conditions that in our practice are the most common scenarios for prophylactic bilateral gonadectomy in prevention of the development of malignant germ cell tumors include Turner (subset +Y), Swyer, and Frasier syndromes. Turner syndrome affects approximately 1 in every 2000 to 5000 live-born females, of which about 55% have a nonmosaic 45,X0 karyotype; 40% have a mosaic karyotype of various complexity; and 5% have a structural abnormality of the sex chromosome.

Insights into selected genetic diseases affecting the female reproductive tract and their implication for pathologic evaluation of gynecologic specimens

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