PhD Scientific Days 2017

Oral Presentations: Head&Neck & Basic Sciences I.

Prevalence of GJB2 mutations in patients with non-syndromic sensorineural deafness in Hungary

Előadó neve

Dr. Kecskeméti, Nóra

Előadó munkahelye

Department of Otolaryngology, Head and Neck-Srugery, Semmelweis University

Előadó telefonszáma

06206632132

Előadó e-mail címe

nora.kecskemeti@gmail.com

Az előadás címe

Prevalence of GJB2 mutations in patients with non-syndromic sensorineural deafness in Hungary

Szerző(k) neve és munkahelye

Nóra Kecskeméti1,2*, Magdolna Szőnyi2*, Anna Kékesi1, György Mate Milley1, Marianna Küstel2, Anita Gáborján2, László Noszek2, László Tamás2, Mária Judit Molnár1, Anikó Gál1

1. Institute of Genomic Medicine and Rare Disorders, Semmelweis Universitiy, Budapest, Hungary
2. Department of Otolaringology, Head- and Necksurgery, Semmelweis University, Budapest, Hungary

Szekció

Oral Presentations: Head&Neck & Basic Sciences I.

Data of the presenter

Clinical Medicine
Program:Inner ear Disorders
Supervisor: Ágnes Szirmai
email: nora.kecskemeti@gmail.com

Text of the abstract

Introduction: Non-syndromic sensorineural hearing loss occurs in 1:1000 neonates, among them cc. 50% has been genetically determined. Mutations in GJB2 are the most common cause of autosomal recessive deafness, which relevant to half of all cases of hereditary deafness. In this study we estimate the frequency of GJB2 gene mutations among Hungarian patients with sensorineural hearing loss.
Methods: 253 patients (100 male, 153 female) with uni- or bilateral, mild to profound hearing loss were selected with audiological tests for the genetic analysis. The GJB2 gene was analyzed by Sanger sequencing.
Results: In our investigated cohort 10 different pathogenic mutations (c.35delG, W24X, , V37I, E47X, E147K, c.313_326delAAGTTCATCAAGGG, L90P, A149T, Q80P, M34T) and 3 polymorphism were found. At least one pathogenic mutation was found in 22,8% of the investigated probands. Among them 22 patients have homozygous c.35delG deletion (8,6%), in 8 cases compound heterozygous alterations were detected (3,1%) and 28 had one mutant allele (11.1%). All patients with homozygous c.35delG mutation had profound hearing loss.
Conclusions: The GJB2 pathogenic alterations are common causes of sensorineural deafness among Hungarian patients. In homozygous cases GJB2 mutations showed severe clinical phenotype. Using similar selection criteria, the found GJB2 mutation frequency seems to be identical to other genetic epidemiology studies in different Caucasian cohorts.

Kind

Szabad

Előadás fájl jóváhagyás

nem rendelkezett róla

Előadó

1309

Authors (legacy)

Nóra Kecskeméti1,2*, Magdolna Szőnyi2*, Anna Kékesi1, György Mate Milley1, Marianna Küstel2, Anita Gáborján2, László Noszek2, László Tamás2, Mária Judit Molnár1, Anikó Gál1

1. Institute of Genomic Medicine and Rare Disorders, Semmelweis Universitiy, Budapest, Hungary
2. Department of Otolaringology, Head- and Necksurgery, Semmelweis University, Budapest, Hungary