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01-08-2005 | Original Paper

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

Authors: Kunihiko Takahashi, Shigetoyo Kogaki, Shunji Kurotobi, Sayaka Nasuno, Makiko Ohta, Hitomi Okabe, Kazuko Wada, Norio Sakai, Masako Taniike, Keiichi Ozono

Published in: European Journal of Pediatrics | Issue 8/2005

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.

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Title: A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy
Authors: Kunihiko Takahashi
Shigetoyo Kogaki
Shunji Kurotobi
Sayaka Nasuno
Makiko Ohta
Hitomi Okabe
Kazuko Wada
Norio Sakai
Masako Taniike
Keiichi Ozono
Publication date: 01-08-2005
Publisher: Springer-Verlag
Published in: European Journal of Pediatrics / Issue 8/2005
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-005-1679-y

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

Abstract

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Abstract

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