Erschienen in:
01.08.2005 | Original Paper
A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy
verfasst von:
Kunihiko Takahashi, Shigetoyo Kogaki, Shunji Kurotobi, Sayaka Nasuno, Makiko Ohta, Hitomi Okabe, Kazuko Wada, Norio Sakai, Masako Taniike, Keiichi Ozono
Erschienen in:
European Journal of Pediatrics
|
Ausgabe 8/2005
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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.