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European Journal of Pediatrics

, Volume 164, Issue 8, pp 497–500 | Cite as

A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy

  • Kunihiko Takahashi
  • Shigetoyo KogakiEmail author
  • Shunji Kurotobi
  • Sayaka Nasuno
  • Makiko Ohta
  • Hitomi Okabe
  • Kazuko Wada
  • Norio Sakai
  • Masako Taniike
  • Keiichi Ozono
Original Paper

Abstract

A male infant with clinical features of Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy is reported. He manifested severe heart failure and failure to thrive. Administration of propranolol and cibenzoline improved ventricular outflow tract obstruction, leading to catch-up growth. Genetic analysis of the patient revealed a novel missense mutation in the PTPN11 gene. Conclusion:This is the first description of a patient with a Gln510Glu mutation in the protein-tyrosine phosphatase, non-receptor type 11 gene. This specific mutation may be associated with a rapidly progressive hypertrophic cardiomyopathy.

Keywords

Hypertrophic cardiomyopathy Infant Mutation Noonan syndrome PTPN11 

Abbreviations

BNP

B-type natriuretic peptide

HCM

hypertrophic cardiomyopathy

LVOTO

left ventricular outflow tract obstruction

PTP

protein tyrosine phosphatase

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Copyright information

© Springer-Verlag 2005

Authors and Affiliations

  • Kunihiko Takahashi
    • 1
  • Shigetoyo Kogaki
    • 1
    Email author
  • Shunji Kurotobi
    • 1
  • Sayaka Nasuno
    • 1
  • Makiko Ohta
    • 1
  • Hitomi Okabe
    • 1
  • Kazuko Wada
    • 1
  • Norio Sakai
    • 1
  • Masako Taniike
    • 1
  • Keiichi Ozono
    • 1
  1. 1.Department of Developmental Medicine (Paediatrics)Osaka University Graduate School of MedicineSuita, OsakaJapan

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