Title: PTPN11 mutations in LEOPARD syndrome
Authors: Legius, Eric ×
Schrander-Stumpel, C
Schollen, E
Pulles-Heintzberger, C
Gewillig, Marc
Fryns, Jean-Pierre #
Issue Date: Aug-2002
Series Title: Journal of medical genetics. vol:39 issue:8 pages:571-4
Abstract: 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.
ISSN: 0022-2593
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Pediatric Cardiology Section (-)
Cardiovascular Developmental Biology
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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