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.

@article{Jeanpierre1998IdentificationOC,
  title={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.},
  author={C{\'e}cile Jeanpierre and Erick Denamur and Isabelle Henry and M O Cabanis and Sandrine Luce and A C{\'e}cille and Jacques E Elion and Michel Peuchmaur and Chantal Loirat and Patrick Niaudet and Marie Claire Gubler and Claudine Junien},
  journal={American journal of human genetics},
  year={1998},
  volume={62 4},
  pages={824-33}
}
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 (R394W) in exon 9. We analyzed a series of 24 patients, 10 with isolated DMS (IDMS… CONTINUE READING

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