@entity22164 ( @entity22164 ) is a @entity395 defined by male pseudo- @entity4998 and progressive @entity8 . @entity1 present with normal female external genitalia, streak gonads and XY karyotype and frequently develop @entity5712 . Glomerular symptoms consist of childhood @entity644 and @entity1985 , characterized by unspecific focal and @entity8 , progressing to @entity454 in adolescence or early adulthood. No case of @entity3969 has been reported, even in @entity1 with extended follow-up. In contrast with @entity22164 @entity1 , most individuals with @entity5854 ( @entity5854 ; refs 6,7) have @entity4998 or a female phenotype, an XY karyotype and dysgenetic gonads. Renal symptoms are characterized by @entity7622 , usually before the age of one year, and @entity1 frequently develop @entity3969 . Mutations of the @entity3969 gene, @entity8587 , cause different pathologies of the urogenital system, including @entity5854 . @entity8587 is composed of ten exons and encodes a protein with four @entity219 -finger motifs and transcriptional and @entity5 -suppressor activities. Alternative splicing generates four isoforms: the fifth exon may or may not be present, and an alternative splice site in intron 9 allows the addition of three @entity1522 (KTS) between the third and fourth zinc fingers of @entity8587 (ref. 17). Here we demonstrate that @entity22164 is caused by mutations in the donor splice site in intron 9 of @entity8587 , with the predicted loss of the +KTS isoform. Examination of @entity8587 transcripts indeed showed a diminution of the +KTS/-KTS isoform ratio in @entity1 with @entity22164 .

Donor splice-site mutations in @entity8587 are responsible for XXXX .

@entity1 :: ('9606', 'Species') :: ['Patients', 'patients'] @entity644 :: ('MESH:D011507', 'Disease') :: ['proteinuria'] @entity8 :: ('MESH:D007674', 'Disease') :: ['segmental glomerular sclerosis', 'glomerulopathy'] @entity1985 :: ('MESH:D009404', 'Disease') :: ['nephrotic syndrome'] @entity4998 :: ('MESH:D012734', 'Disease') :: ['ambiguous genitalia', 'hermaphroditism'] @entity1522 :: ('CHEBI:33709', 'Chemical') :: ['amino acids'] @entity5712 :: ('MESH:D018238', 'Disease') :: ['gonadoblastoma'] @entity5 :: ('MESH:D009369', 'Disease') :: ['tumour'] @entity219 :: ('MESH:D015032', 'Chemical') :: ['zinc'] @entity3969 :: ('MESH:D009396', 'Disease') :: ["Wilms'-tumour", "Wilms' tumour"] @entity8587 :: ('7490', 'Gene') :: ['WT1'] @entity5854 :: ('MESH:D030321', 'Disease') :: ['DDS', 'Denys-Drash syndrome'] @entity395 :: ('MESH:D035583', 'Disease') :: ['rare disease'] @entity7622 :: ('MESH:C537346', 'Disease') :: ['diffuse mesangial sclerosis'] @entity22164 :: ('MESH:D052159', 'Disease') :: ['Frasier syndrome', 'FS'] @entity454 :: ('MESH:D007676', 'Disease') :: ['end-stage renal failure']
@entity22164 :: (MESH:D052159,Disease) :: ['Frasier syndrome']
