Abstract:
:The WT1 gene is normally expressed during gonadal development and specific mutations in heterozygous form cause Drash syndrome, characterized by male pseudohermaphroditism and gonadal dysgenesis, renal failure and a predisposition for Wilms' tumour. These observations prompted us to test whether WT1 mutations are involved in isolated gonadal dysgenesis, being the most severe form of disturbance in gonadal differentiation. We studied 27 cases of 46,XY females with gonadal dysgenesis who had previously been screened for and found not to carry SRY gene mutations. We performed mutational screening of the WT1 gene with denaturing gradient gel electrophoresis. In one of these patients, a heterozygous point mutation in exon 8 was found. This mutation has previously been described in Drash syndrome and re-evaluation of the clinical data confirmed this diagnosis. Based on these results, we conclude that isolated gonadal dysgenesis is not caused by mutations in the WT1 gene.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Nordenskjöld A,Fricke G,Anvret Mdoi
10.1007/BF00214195subject
Has Abstractpub_date
1995-07-01 00:00:00pages
102-4issue
1eissn
0340-6717issn
1432-1203journal_volume
96pub_type
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