A male infant with clinical features of Noonan syndrome and rapidly progressiv e hypertrophic cardiomyopathy is reported. He manifested severe heart failure an d failure to thrive. Administration of propranolol and ci...A male infant with clinical features of Noonan syndrome and rapidly progressiv e hypertrophic cardiomyopathy is reported. He manifested severe heart failure an d failure to thrive. Administration of propranolol and cibenzoline improved vent ricular outflow tract obstruction, leading to catch-up growth. Genetic analysis of the patient revealed a novel missense mutation in the PTPN11 gene. Conclusio n:This is the first description of a patient with a Gln510Glu mutation in the pr otein-tyrosine phosphatase, non-receptor type 11 gene. This specific mutation may be associated with a rapidly progressive hypertrophic cardiomyopathy.展开更多
PTPN11基因(tyrosine-protein phosphatase non-receptor type 11)编码蛋白SHP-2参与多种细胞生命活动。PTPN11基因突变与血液系统肿瘤、实体肿瘤、先天性心脏畸形等多种疾病相关。近年来临床研究发现PTPN11基因突变也与耳聋发病相关,但...PTPN11基因(tyrosine-protein phosphatase non-receptor type 11)编码蛋白SHP-2参与多种细胞生命活动。PTPN11基因突变与血液系统肿瘤、实体肿瘤、先天性心脏畸形等多种疾病相关。近年来临床研究发现PTPN11基因突变也与耳聋发病相关,但对PTPN11基因突变相关听力降低的临床认识以及该基因编码的蛋白质参与的信号通路机制尚未阐明。展开更多
文摘A male infant with clinical features of Noonan syndrome and rapidly progressiv e hypertrophic cardiomyopathy is reported. He manifested severe heart failure an d failure to thrive. Administration of propranolol and cibenzoline improved vent ricular outflow tract obstruction, leading to catch-up growth. Genetic analysis of the patient revealed a novel missense mutation in the PTPN11 gene. Conclusio n:This is the first description of a patient with a Gln510Glu mutation in the pr otein-tyrosine phosphatase, non-receptor type 11 gene. This specific mutation may be associated with a rapidly progressive hypertrophic cardiomyopathy.
文摘PTPN11基因(tyrosine-protein phosphatase non-receptor type 11)编码蛋白SHP-2参与多种细胞生命活动。PTPN11基因突变与血液系统肿瘤、实体肿瘤、先天性心脏畸形等多种疾病相关。近年来临床研究发现PTPN11基因突变也与耳聋发病相关,但对PTPN11基因突变相关听力降低的临床认识以及该基因编码的蛋白质参与的信号通路机制尚未阐明。
