目的:报道1例因皮肤弥漫性黑色斑疹就诊,确诊为LEOPARD综合征的患者,对其进行基因突变检测并检索相关文献,总结该病基因突变位点及临床特征。方法:采用全外显子组测序方法对患者进行基因突变检测,在PubMed和Web of Science数据库中以(“...目的:报道1例因皮肤弥漫性黑色斑疹就诊,确诊为LEOPARD综合征的患者,对其进行基因突变检测并检索相关文献,总结该病基因突变位点及临床特征。方法:采用全外显子组测序方法对患者进行基因突变检测,在PubMed和Web of Science数据库中以(“LEOPARD syndrome”OR“Noonan syndrome with multiple lentigines”OR“NSML”)AND(PTPN11 OR RAF1 OR BRAF OR MAP2K1)为检索式,检索1964年至2025年10月所有报道具有明确基因突变位点并附有临床表型信息的文献,整理LEOPARD综合征的基因突变谱。结果:患者携带PTPN11基因7号外显子杂合突变(c.836A>G),根据ACMG变异分级,该突变被判定为致病性突变。文献检索共纳入81篇文献、154例患者,临床表现以多发性雀斑样痣为主要特征,常伴不同程度的心脏受累及感音神经性听力异常。PTPN11是最常见的致病基因,占全部病例的93.51%(144/154),其余少见致病基因包括RAF1、BRAF和MAP2K1,其中,RAF1基因突变与肥厚型心肌病的发生密切相关。结论:LEOPARD综合征虽罕见,但具有典型皮肤表现。早期基因学检测及心脏、听力等系统性评估有助于及时识别和综合管理。展开更多
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
文摘目的:报道1例因皮肤弥漫性黑色斑疹就诊,确诊为LEOPARD综合征的患者,对其进行基因突变检测并检索相关文献,总结该病基因突变位点及临床特征。方法:采用全外显子组测序方法对患者进行基因突变检测,在PubMed和Web of Science数据库中以(“LEOPARD syndrome”OR“Noonan syndrome with multiple lentigines”OR“NSML”)AND(PTPN11 OR RAF1 OR BRAF OR MAP2K1)为检索式,检索1964年至2025年10月所有报道具有明确基因突变位点并附有临床表型信息的文献,整理LEOPARD综合征的基因突变谱。结果:患者携带PTPN11基因7号外显子杂合突变(c.836A>G),根据ACMG变异分级,该突变被判定为致病性突变。文献检索共纳入81篇文献、154例患者,临床表现以多发性雀斑样痣为主要特征,常伴不同程度的心脏受累及感音神经性听力异常。PTPN11是最常见的致病基因,占全部病例的93.51%(144/154),其余少见致病基因包括RAF1、BRAF和MAP2K1,其中,RAF1基因突变与肥厚型心肌病的发生密切相关。结论:LEOPARD综合征虽罕见,但具有典型皮肤表现。早期基因学检测及心脏、听力等系统性评估有助于及时识别和综合管理。
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.
