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Prevalence of common genetic mutations and clinical characteristics analysis in patients at different ages with nonsyndromic hearing im-pairment

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  • 1. Department of Otorhinolsryngology, the Second Affiliated Hospital & Yuying Children’s Hospital of Wenzhou Medical College, Wenzhou 325027, China; 2. Zhejiang Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Wenzhou Medical College, Wenzhou 325027, China; 3. College of Life Sciences, Zhejiang University, Hangzhou 310000, China

Received date: 2012-07-05

  Revised date: 2012-08-07

  Online published: 2013-03-25

Abstract

To evaluate the correlation between genetic mutations and the age in nonsyndromic hearing impairment (NSHI) and the clinical characteristics of NSHI, 215 patients with NSHI were enrolled between April 2006 and April 2012. All patients were divided into four groups according to ages of hearing loss onset and clinic presentation (0-3, 3-6, 6-18 and 18+ years). The mutations of GJB2 and mitochondria DNA (mtDNA) 1555G/C1494T were screened from peripheral blood samples in each age group. The prevalence of mutations and the age ratio were obtained. The study showed that 18.14% of all patients were found to have GJB2 mutations and 11.16% were found to have mtDNA A1555G/C1494T mutations. The prevalence of GJB2 mutation in adult group (5.26%) was lower than juvenile group who sought medical attention at 0-18 years of age (22.36%), while the prevalence of mtDNA A1555G/C1494T in adult group (31.48%) was higher than juvenile group (4.97%). Significant differences in the prevalence of GJB2 (χ2=7.108, P=0.008) and mtDNA A1555G/C1494T (χ2=20.852, P=0.000) were observed in both of two groups. The prevalence of GJB2 mutations between adult and juvenile groups according to ages of hearing loss onset was statistically significant different (0%, 20.10%, respectively, and P=0.023), while the prevalence of mtDNA A1555G/C1494T mutations was not different (14.29%, 11.34%, respectively, and P=0.698). The onset age of 66.67% of patients with GJB2 mutations was less than 1 year old, while the onset of patients with mtDNA A1555G/C1494T mutations could be found at any age group. Dif-ferent standardizations of hearing loss could also show different results. These data strongly suggest that most of GJB2 mutations are found in congenital deafness and mtDNA A1555G/C1494T mutations mainly represent acquired deafness, which can be induced or aggravated by aminoglycoside antibiotics in all age groups and should be tested mainly ranging from 4 kHz to 8 kHz. Both newborn hearing screening and genetic testing are important to find early deafness.

Cite this article

ZHANG Chu-Qin, CHEN Bo-Bei, CHEN Ying-Ying, LIU XUE-Jun, ZHENG Jing, GAO Jin-Jian, HUANG Sai-Yu, NAN Ben-Yu, ZHANG Yu-Yao, YU Xiao, GUAN Min-Xin . Prevalence of common genetic mutations and clinical characteristics analysis in patients at different ages with nonsyndromic hearing im-pairment[J]. Hereditas(Beijing), 2013 , 35(3) : 352 -358 . DOI: 10.3724/SP.J.1005.2013.00352

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