RRML - GJB2 and GJB6 genes mutations in children with non-syndromic hearing loss
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Dr. Adrian Man
   
 
Nr. 25(1)/2017 DOI:10.1515/rrlm-2017-0004
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Research article

GJB2 and GJB6 genes mutations in children with non-syndromic hearing loss

Călin Lazăr, Radu Popp, Camelia Al-Khzouz, Gheorghe Mihuț, Paula Grigorescu-Sido

Correspondence should be addressed to: Călin Lazăr

Abstract:

Introduction. At the moment there is not enough data in Romania about the incidence of the main genetic mutations which can cause hearing loss. Objective. The current research aims to determine on a representative sample the prevalence of two mutations of genes GJB2 -c.35delG and p.W24X- and two mutations of genes GJB6 -del(GJB6-D13S1830), del(GJB6-D13S1854) respectively - in patients with congenital nonsyndromic sensorineural hearing loss (CNSHL). Methods: The sample group included 179 children with CNSHL. The evaluation consist in: a.Clinical, laboratory and imagistic examination; b.ENT exam and audiological evaluation. c.Two methods (semi-nested PCR technique followed by RFLP, validated with ARMS-PCR analysis) for detection of c.35delG and pW24X mutations; d.PCR-multiplex technique for detecting del(GJB6-D13S1830) and del (GJB6-D13S1854). Results: The audiological diagnosis was: profound hearing loss in 116 patients (64.8%), severe hearing loss in 29 children (16.2%) and moderate hearing loss in 34 patients (representing 19% of the trial patients). The prevalence for the three mutations was: 27.3 % for c.35delG, 3.6 % for p.W24X and 0.28% for del(GJB6-D13S1830). The detection of the three mutations (two on GJB2 gene and one on GJB 6 gene) has allowed to establish the genetic cause for deafness in 45 patients, representing 25.14% of the sample group. Our study is reporting the first case in Romania with a mutation of gene GJB6. Mutation del(GJB6-D13S1854) lacked in all 179 patients. Conclusion: The prevalence data obtained in the current research are comparable to data communicated by studies from other European countries.

Keywords: connexin 26 and 30, GJB2 mutation, GJB6 mutation , sensorineural hearing loss

Received: 30.8.2016
Accepted: 29.11.2016
Published: 19.1.2017

 
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How to cite
Lazăr C, Popp R, Al-Khzouz C, Mihuț G, Grigorescu-Sido P. GJB2 and GJB6 genes mutations in children with non-syndromic hearing loss. Rev Romana Med Lab. 2017;25(1):37-46. DOI:10.1515/rrlm-2017-0004