A Novel Mutation in the PTPN11 Gene in a Patient with Noonan Syndrome and Rapidly Progressive Hypertrophic Cardiomyopathy

Overview

Journal Eur J Pediatr

Specialty Pediatrics

Date 2005 May 13

PMID 15889278

Citations 21

Authors

Kunihiko Takahashi

Shigetoyo Kogaki

Shunji Kurotobi

Sayaka Nasuno

Makiko Ohta

Hitomi Okabe

Kazuko Wada

Norio Sakai

Masako Taniike

Keiichi Ozono

Affiliations

Soon will be listed here.

Abstract

Unlabelled: 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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