中国听力语言康复科学杂志2024，Vol.22Issue(1)：99-102,4.DOI:10.3969/j.issn.1672-4933.2024.01.026
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
摘要
Abstract
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.关键词
Noonan综合征/感音神经性聋/PTPN11基因/人工耳蜗植入Key words
Noonan syndrome/Sensorineural deafness/PTPN11 gene/Cochlear implant分类
医药卫生引用本文复制引用
周虹,段宏,高建军,郭刚..Noonan Syndrome患儿临床特征及致病基因分析[J].中国听力语言康复科学杂志,2024,22(1):99-102,4.基金项目
内蒙古自治区科技计划项目(2022YFSH0037) （2022YFSH0037）
内蒙古自治区科技计划项目(2021GG0190) （2021GG0190）
内蒙古自治区自然科学基金项目(2023LHMS08063) （2023LHMS08063）
