Noonan Syndrome患儿临床特征及致病基因分析

Clinical Characteristics and Pathogenic Gene Analysis of Children with Noonan Syndrome

努南综合征(Noonan syndrome,NS)为常染色体显性遗传病,临床特征上可有多系统损害,如独特的面部畸形、先天性心脏缺陷、身材矮小、隐睾、淋巴畸形、出血性疾病和骨骼畸形等,部分患者有听力障碍。临床上已有报道Noonan综合征是感音神经性聋的罕见病因。本文描述了1名双侧严重听力损失的Noonan综合征患者,成功行双侧人工耳蜗植入。2019年该患儿因神经性耳聋、特殊面容及生长发育问题就诊于首都医科大学附属儿童医院,通过全外显子组测序检测到PTPN11基因存在c.417G>C致病性变异,确诊为Noonan综合征1型。本研究的成功实施,有助于进一步明确NSPTPN11致病基因,为家族成员的遗传咨询及未来的优生优育咨询提供理论依据。

Noonan syndrome(NS)is an autosomal dominant disorder characterized by multiple system impairments,such as distinctive facial deformities,congenital heart defects,short stature,cryptorchidism,lymphatic malformations,hemorrhagic disorders,and skeletal malformations.Some patients have hearing difficulties.It has been reported that NS is a rare cause of sensorineural deafness.This study describes a patient with Noonan syndrome with bilateral severe hearing loss who underwent a successful cochlear implantation.In 2019,the child was admitted to the Children's Hospital Affiliated to Capital Medical University with neurological deafness,special facial features and growth and development problems,and was diagnosed as Noonan syndrome type 1 after whole exome sequencing detected the presence of C.417G>C pathogenic variation in PTPN11 gene.In this study,the mutation identification of pathogenic gene PTPN11 can assist clinical diagnosis,and provide guidance for genetic counseling of family members and future eugenics of patients.