Frasier syndrome is a rare disorder defined by gonadal dysgenesis, male pseudohermaphroditism and progressive glomerulopathy. It is caused by mutations in the donor splice site in intron 9 of the WT1 gene.
Synopsis
- diffuse mesangial sclerosis
- nonspecific focal and segmental glomerulosclerosis (FSGS)
hypospadias
cryptorchidism
male pseudohermaphroditism with retentio testis
- male to female sex reversal
- atrophic ovaries
- hypoplastic uterus
- gonadal dysgenesis
tumoral predisposition
- gonadoblastoma in situ
- gonadoblastoma (17101338)
- seminoma (17101338)
Etiology
constitutional mutations in the WT1 gene
- donor splice site heterozygous mutations in intron 9
See also
References
Gwin K, Cajaiba M, Caminoa-Lizarralde A, Picazo M, Nistal M, Reyes-Mugica M. Expanding the clinical spectrum of Frasier syndrome. Pediatr Dev Pathol. 2007 Mar 22:1 PMID: 17378674
Love JD, DeMartini SD, Coppola CP. Prophylactic bilateral salpingo-oopherectomy in a 17-year-old with Frasier syndrome reveals gonadoblastoma and seminoma: a case report. J Pediatr Surg. 2006 Nov;41(11):e1-4. PMID: 17101338
Barbosa AS, Hadjiathanasiou CG, Theodoridis C, Papathanasiou A, Tar A, Merksz M, Gyorvari B, Sultan C, Dumas R, Jaubert F, Niaudet P, Moreira-Filho CA, Cotinot C, Fellous M. The same mutation affecting the splicing of WT1 gene is present on Frasier syndrome patients with or without Wilms’ tumor. Hum Mutat. 1999;13(2):146-53. PMID: #10094551
Barbaux S, Niaudet P, Gubler MC, Grunfeld JP, Jaubert F, Kuttenn F, Fekete CN, Souleyreau-Therville N, Thibaud E, Fellous M, McElreavey K. Donor splice-site mutations in WT1 are responsible for Frasier syndrome. Nat Genet. 1997 Dec;17(4):467-70. PMID: 9398852