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

被引:38
作者
Takahashi, K [1 ]
Kogaki, S [1 ]
Kurotobi, S [1 ]
Nasuno, S [1 ]
Ohta, M [1 ]
Okabe, H [1 ]
Wada, K [1 ]
Sakai, N [1 ]
Taniike, M [1 ]
Ozono, K [1 ]
机构
[1] Osaka Univ, Grad Sch Med, Dept Dev Med Paediat, Suita, Osaka 5650871, Japan
关键词
hypertrophic cardiomyopathy; infant; mutation; Noonan syndrome; PTPN11;
D O I
10.1007/s00431-005-1679-y
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
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.
引用
收藏
页码:497 / 500
页数:4
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