Article
Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database.
American journal of human genetics - 1 Apr 1998
Jeanpierre C, Denamur E, Henry I, Cabanis M O, Luce S, Cécille A, Elion J, Peuchmaur M, Loirat C, Niaudet P, Gubler M C, Junien C
Abstract excerpt
Constitutional mutations of the WT1 gene, encoding a zinc-finger transcription factor involved in renal and gonadal development, are found in most patients with Denys-Drash syndrome (DDS), or diffuse mesangial sclerosis (DMS) associated with pseudohermaphroditism and/or Wilms tumor (WT). Most mutations in DDS patients lie in exon 8 or exon 9, encoding zinc finger 2 or zinc finger 3, respectively, with a hot spot...
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