PT - JOURNAL ARTICLE AU - E Legius AU - C Schrander-Stumpel AU - E Schollen AU - C Pulles-Heintzberger AU - M Gewillig AU - J-P Fryns TI - <em>PTPN11</em> mutations in LEOPARD syndrome AID - 10.1136/jmg.39.8.571 DP - 2002 Aug 01 TA - Journal of Medical Genetics PG - 571--574 VI - 39 IP - 8 4099 - http://jmg.bmj.com/content/39/8/571.short 4100 - http://jmg.bmj.com/content/39/8/571.full SO - J Med Genet2002 Aug 01; 39 AB - 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.