PTPN11 gene mutations: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype"

Eur J Pediatr. 2006 Nov;165(11):803-5. doi: 10.1007/s00431-006-0163-7. Epub 2006 May 30.

Abstract

We describe the "LEOPARD syndrome (LS) phenotype" associated with the Gln510Glu mutation of the PTPN11 gene in two patients presenting with rapidly progressive severe biventricular obstructive hypertrophic cardiomyopathy and structural abnormalities of the mitral valve, facial anomalies, café-au-lait spots and multiple lentigines.

Publication types

  • Case Reports

MeSH terms

  • Cardiomyopathy, Hypertrophic / diagnosis
  • Cardiomyopathy, Hypertrophic / genetics*
  • Child, Preschool
  • Diagnosis, Differential
  • Female
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics*
  • LEOPARD Syndrome / diagnosis
  • LEOPARD Syndrome / genetics*
  • Male
  • Mutation*
  • Noonan Syndrome / diagnosis
  • Noonan Syndrome / genetics
  • Phenotype
  • Prenatal Diagnosis
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11
  • Protein Tyrosine Phosphatases / genetics*

Substances

  • Intracellular Signaling Peptides and Proteins
  • PTPN11 protein, human
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11
  • Protein Tyrosine Phosphatases

Associated data

  • OMIM/151100
  • OMIM/163950