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PTPN11 mutations in LEOPARD syndrome
  1. E Legius1,
  2. C Schrander-Stumpel2,3,
  3. E Schollen1,
  4. C Pulles-Heintzberger4,
  5. M Gewillig5,
  6. J-P Fryns1,3
  1. 1Centre for Human Genetics, University Hospitals, Leuven, Belgium
  2. 2Research Institute Growth & Development (GROW), Maastricht University, Maastricht, The Netherlands
  3. 3Departments of Clinical Genetics, Academic Hospital Maastricht, Maastricht, The Netherlands
  4. 4Department of Paediatric Cardiology, Academic Hospital Maastricht, Maastricht, The Netherlands
  5. 5Department of Paediatric Cardiology, University Hospitals Leuven, Leuven, Belgium
  1. Correspondence to:
 Dr E Legius, Centre for Human Genetics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium;


LEOPARD syndrome is an autosomal dominant disorder with multiple lentigines, congenital cardiac abnormalities, ocular hypertelorism, and retardation of growth. Deafness and genital abnormalities are less frequently found. We report a father and daughter and a third, unrelated patient with LEOPARD syndrome. Recently, missense mutations in the PTPN11 gene located in 12q24 were found to cause Noonan syndrome. All three cases of LEOPARD syndrome reported here have a Y279C mutation in the PTPN11 gene. We hypothesise that some PTPN11 mutations are associated with the typical Noonan syndrome phenotype and that other mutations, such as the Y279C mutation reported here, are associated with both the Noonan syndrome phenotype and with skin pigmentation anomalies, such as multiple lentigines or café au lait spots.

  • LEOPARD syndrome
  • Noonan syndrome
  • PTPN11 mutations
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