Balkan Journal of Medical Genetics

GENETIC AND CLINICAL ANALYSIS OF NONSYNDROMIC HEARING IMPAIRMENT IN PEDIATRIC AND ADULT CASES
Xing J, Liu X, Tian Y, Tan J, Zhao H
*Corresponding Author: Mr. Xinguo Liu, Ear, Nose and Throat Department, The Central Hospital of Zhumadian, No. 747, Zhonghua Road, Zhumadian City, Henan Province, People’s Republic of China, 463000. Tel: +86-396-292-6205. Fax: +86-396-272-6530. E-mail: xingglsci@163.com
page: 35

INTRODUCTION

Hearing impairment, or deafness, results from varying degrees of auditory dysfunction that is caused by lesions in the auditory nerve and other nerve centers that perceive and transmit sounds to the brain. Approximately 60.0% of hearing impairment is associated with genetic factors, and these cases are categorized as either syndromic hearing loss (SHL) or nonsyndromic hearing impairment (NSHI) [1-3]. Nonsyndromic hearing impairment can present at any age and can result from various inheritance patterns, including autosomal recessive, autosomal dominant, X-linked and mitochondrial transmission of genetic alterations. For example, autosomal recessive mutations in the GJB2 gene have been linked with NSHI in Caucasians [4-6], and alterations in the mitochondrial genome [mitochondrial DNA (mtDNA) A1555G/ C1494T] mutations have been associated with NSHI in East Asian individuals [7]. Interestingly, studies in Chinese individuals have linked NSHI with both the GJB2 gene and the mtDNA A1555G and C1494T mutations [8-10]. However, the mutation rates for these known alterations differ in NSHI patients across various regions. Additionally, the previous studies focused primarily on pediatric NSHI patients ages 6 to 18 years, thereby excluding other age groups and without any investigation of age-related differences in mutation type and onset of NSHI [8-10]. To fill these gaps, the current study assessed both pediatric and adult NSHI patients and explored the correlations between the age of onset and clinical phenotypes and the GJB2 gene and mtDNA A1555G/C1494T mutation status. These findings provide a scientific basis for developing improved guidelines for the genetic diagnosis of deafness.

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