Frasier syndrome is a rare disorder defined by male pseudohermaphroditism and progressive glomerulopathy.

Synopsis

 nonspecific focal and segmental glomerulosclerosis (FSGS)
 hypospadias
 cryptorchidism
 male pseudohermaphroditism with retentio testis (male sex reversal)
 gonadal dysgenesis
 gonadoblastoma in situ

Etiology

 constitutional mutations in the WT1 gene

• donor splice site heterozygous mutations in intron 9

References

 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#