Prevalence of GJB6 mutations in Chinese patients with non-syndromic hearing loss

被引：9
|
作者：
Chen, Peiwei [2 ]
Chen, Hui [2 ]
Fu, Siqing [1 ]
Chen, Guanming [3 ]
Dong, Jiashu [4 ]
机构：
[1] Huazhong Univ Sci & Technol, Tongji Med Coll, Dept Med Genet, Wuhan 430030, Peoples R China
[2] Cent Hosp Enshi Tujia & Miao Autonomous Prefectur, Dept Pediat, Enshi 445000, Hubei Province, Peoples R China
[3] Huazhong Univ Sci & Technol, Tongji Med Coll, Dept Otolarygol, Tongji Hosp, Wuhan 430030, Peoples R China
[4] Rehabil Res Ctr Deaf Children, Wuhan, Peoples R China
来源：
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY | 2012年 / 76卷 / 02期
关键词：
GJB6; gene; del(GJB6-D13S1830); Non-syndromic hearing loss; Chinese population; 26 GENE GJB2; CONNEXIN-30; GENE; HUBEI PROVINCE; HIGH-FREQUENCY; DEL(GJB6-D13S1830); DEAFNESS; INDIVIDUALS; IMPAIRMENT; FAMILIES; ETIOLOGY;
D O I：
10.1016/j.ijporl.2011.11.018
中图分类号：
R76 [耳鼻咽喉科学];
学科分类号：
100213 ;
摘要：
Objective: To investigate the distribution of GJB6 mutations in Central Chinese population with nonsyndromic hearing loss. Method: Totally 655 hearing impaired patients in Hubei province of China were screened for del(GJB6-D13S1830) deletions by using multiplex PCR and sequencing of GJB6 whole coding region. Result: The del(GJB6-D13S1830) and other mutations in GJB6 gene were not observed in our study cohort. Conclusion: The results suggest that GJB6 mutations is not a common cause among Central Chinese population and screening for the mutations of GJB6 can be ranked as unconventional deaf gene test for this population. (C) 2011 Elsevier Ireland Ltd. All rights reserved.
引用
收藏
页码：265 / 267
页数：3
相关论文
共 50 条
  • [1] Absence of GJB6 mutations in Indian patients with non-syndromic hearing loss
    Bhalla, Seema
    Sharma, Rajni
    Khandelwal, Gaurav
    Panda, Naresh K.
    Khullar, Madhu
    INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2011, 75 (03) : 356 - 359
  • [2] Evaluation of GJB2 and GJB6 Mutations in Patients Afflicted with Non-syndromic Hearing Loss
    Abtahi, Seyed Hamid Reza
    Malekzadeh, Ali
    Soheilipour, Saeed
    Salehi, Mansoor
    Taleban, Roya
    Rabieian, Reyhaneh
    Moafi, Mohammad
    INTERNATIONAL JOURNAL OF PEDIATRICS-MASHHAD, 2019, 7 (02): : 9053 - 9060
  • [3] GJB2 and GJB6 genes mutations in children with non-syndromic hearing loss
    Lazar, Calin
    Popp, Radu
    Al-Khzouz, Camelia
    Mihut, Gheorghe
    Grigorescu-Sido, Paula
    REVISTA ROMANA DE MEDICINA DE LABORATOR, 2017, 25 (01): : 37 - 46
  • [4] GJB2 and GJB6 Mutations in Non-Syndromic Childhood Hearing Impairment in Ghana
    Adadey, Samuel M.
    Manyisa, Noluthando
    Mnika, Khuthala
    de Kock, Carmen
    Nembaware, Victoria
    Quaye, Osbourne
    Amedofu, Geoffrey K.
    Awandare, Gordon A.
    Wonkam, Ambroise
    FRONTIERS IN GENETICS, 2019, 10
  • [5] GJB2 and GJB6 mutations in 165 Danish patients showing non-syndromic hearing impairment
    Gronskov, K
    Larsen, LA
    Rendtorff, ND
    Parving, A
    Norgaard-Pedersen, B
    Brondum-Nielsen, K
    GENETIC TESTING, 2004, 8 (02): : 181 - 184
  • [6] GJB2 and GJB6 Mutations in Hereditary Recessive Non-Syndromic Hearing Impairment in Cameroon
    Wonkam, Edmond Tingang
    Chimusa, Emile
    Noubiap, Jean Jacques
    Adadey, Samuel Mawuli
    Fokouo, Jean Valentin F.
    Wonkam, Ambroise
    GENES, 2019, 10 (11)
  • [7] The Analysis of GJB2, GJB3, and GJB6 Gene Mutations in Patients with Hereditary Non-Syndromic Hearing Loss Living in Sivas
    Kurtulgan, Hande Kucuk
    Altuntas, Emine Elif
    Yildirim, Malik Ejder
    Ozdemir, Ozturk
    Bagci, Binnur
    Sezgin, Ilhan
    JOURNAL OF INTERNATIONAL ADVANCED OTOLOGY, 2019, 15 (03): : 373 - 378
  • [8] Low incidence of GJB2, GJB6 and mitochondrial DNA mutations in North Indian patients with non-syndromic hearing impairment
    Bhalla, Seema
    Sharma, Rajni
    Khandelwal, Gaurav
    Panda, Naresh K.
    Khullar, Madhu
    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2009, 385 (03) : 445 - 448
  • [9] GJB2 and GJB6 Mutations in Non-Syndromic Childhood Hearing Impairment in Ghana (vol 10, 841, 2019)
    FRONTIERS IN GENETICS, 2019, 10
  • [10] A Descriptive Observational Study of GJB2 and GJB6 Mutations in Familial Autosomal Recessive Non-syndromic Hearing Impairment
    Aakanksha Dadhich
    Shruti Bhargava
    Sunil Samdhani
    Bharti Malhotra
    Priyanshu Mathur
    Anshu Rawat
    Mohnish Grover
    Indian Journal of Otolaryngology and Head & Neck Surgery, 2023, 75 : 3575 - 3580
12345