Noonan Syndrome患儿临床特征及致病基因分析

周虹; 段宏; 高建军; 郭刚

doi:10.3969/j.issn.1672-4933.2024.01.026

您当前的位置：

首页 >

文章列表页 >

Noonan Syndrome患儿临床特征及致病基因分析

病例报道 | 更新时间：2024-03-22

- 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
- 中国听力语言康复科学杂志 2024年22卷第1期页码：99-102
- 作者机构：
  
  内蒙古医科大学附属医院耳鼻咽喉头颈外科呼和浩特 010000
- 作者简介：
  
  周虹在读硕士；研究方向：耳科学，聋病分子诊断
  段宏，E-mail：dh980611@126.com
- 基金信息：
  
  内蒙古自治区科技计划项目(2022YFSH0037);内蒙古自治区科技计划项目(2021GG0190);内蒙古自治区自然科学基金项目(2023LHMS08063)
- DOI：10.3969/j.issn.1672-4933.2024.01.026
  中图分类号： R764.5
- 纸质出版日期：2024-01-15，
  
  收稿日期：2023-08-03，
- 稿件说明：
移动端阅览
周虹,段宏,高建军等.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(01):99-102.

ZHOU Hong,DUAN Hong,GAO Jian-jun,et al.Clinical Characteristics and Pathogenic Gene Analysis of Children with Noonan Syndrome[J].Chinese Scientific Journal of Hearing and Speech Rehabilitation,2024,22(01):99-102.
周虹,段宏,高建军等.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(01):99-102. DOI： 10.3969/j.issn.1672-4933.2024.01.026.

ZHOU Hong,DUAN Hong,GAO Jian-jun,et al.Clinical Characteristics and Pathogenic Gene Analysis of Children with Noonan Syndrome[J].Chinese Scientific Journal of Hearing and Speech Rehabilitation,2024,22(01):99-102. DOI： 10.3969/j.issn.1672-4933.2024.01.026.

摘要

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NS

PTPN11

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。

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

Keywords

Noonan syndromeSensorineural deafnessPTPN11 geneCochlear implant

references

Roberts AE, Allanson JE, Tartaglia M, et al. Noonan syndrome [J]. Lancet, 2013, 381(9863):333-342.

Van der Burgt I, Berends E, Lommen E, et al. Clinical and molecular studies in a large Dutch family with Noonan syndrome[J]. Am J Med Genet, 1994,53(2):187-191.

Fragale A,Tartaglia M,Wu J,et al. Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation[J]. Hum Mutat,2004,23(3):267-277.

Zenker M, Edouard T, Blair JC, et al. Noonan syndrome: improving recognition and diagnosis[J]. Arch Dis Child, 2022,107(12):1073-1078.

Tajan M, Paccoud R, Branka S, et al. The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK Pathway [J]. Endocr Rev, 2018,39(5):676-700.

Grant AR, Cushman BJ, Cavé H, et al. Assessing the gene- disease association of 19 genes with the RASopathies using the ClinGen gene curation framework [J]. Hum Mutat, 2018, 39(11):1485-1493.

Capri Y, Flex E, Krumbach OHF, et al. Activating mutations of RRAS2 are a rare cause of Noonan syndrome [J]. Am J Hum Genet, 2019,104(6):1223-1232.

Pandit B, Sarkozy A, Pennacchio LA, et al. Gain- Of- Function Raf1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy [J]. Nat Genet, 2007, 39(8):1007-1012.

Kouz K, Lissewski C, Spranger S, et al. Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation [J]. Genet Med, 2016, 18(12):1226-1234.

Strullu M, Caye A, Lachenaud J, et al. Juvenile myelomonocytic leukaemia and Noonan syndrome [J]. J Med Genet, 2014,51(10):689-697.

Croll PH,Vinke EJ,Armstrong NM,et al. Hearing loss and cognitive decline in the general population: a prospective cohort study [J]. J Neurol, 2021, 268(3):860-871.

高雪,辛凤,袁慧军,等.遗传性耳聋相关基因 SLC26A4 新突变致病性分析[J]. 中华耳科学杂志,2014,12(01):26-29.

Sharland M, Burch M, McKenna WM, et al. A clinical study of Noonan syndrome [J]. Arch Dis Child, 1992 ,67(2):178-183.

van Trier DC, van Nierop J, Draaisma JMT,et al. External ear anomalies and hearing impairment in Noonan Syndrome [J]. Int J Pediatr Otorhinolaryngol, 2015,79(6):874-878.

胡澜也,陈洁,辛渊,等.PTPN11基因变异的Noonan综合征患儿行人工耳蜗植入1例[J]. 临床耳鼻咽喉头颈外科杂志,2021,35(09):839-842.

Dahlgren J. GH therapy in Noonan syndrome: review of final height data[J]. Horm Res,2009,72(S2):46-48.

浏览量

下载量

CSCD

文章被引用时，请邮件提醒。

提交

工具集

关联资源

大龄语前聋患者人工耳蜗植入术后康复效果评估

感音神经性聋患者颈性前庭诱发肌源性电位检测应用进展

学龄前健听儿童和人工耳蜗植入儿童声调识别对比研究

听觉重塑中时间因素对人工耳蜗植入后电诱发中潜伏期反应的影响分析

特殊病例的人工耳蜗植入