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
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Abstract
Previous studies have linked GJB2 gene and
mitochondrial DNA (mtDNA) mutations to nonsyndromic
hearing impairment (NSHI), but no study in
China has yet investigated these mutations across
all age groups. To fill the gap, this study ascertained
263 patients with NSHI between ages 2 months and
60 years and analyzed the presence of GJB2 gene
and mtDNA A1555G/C1494T mutations by polymerase
chain reaction (PCR) and DNA sequencing.
A total of 20 types of mutations were detected
for the GJB2 gene. The GJB2 gene and mtDNA
A1555G/C1494T mutations were detected in 18.63
and 11.41% cases, respectively. At the first hospital
visit, GJB2 gene mutations were detected in 5.97%
of adult patients (>18 years) and 22.96% pediatric
patients (<18 years) (χ2 =9.506, p = 0.002), and
mtDNA A1555G/C1494T mutations were detected
in 31.34% of adult patients and 4.59% of pediatric
patients (χ2 = 35.359, p <0.001). When patients were
classified by age at onset of deafness, significantly
more (20.68%) pediatric patients had GJB2 gene
mutations than did adult patients (0.0%) (χ2 = 4.685;
p = 0.006). Mitochondrial DNA A1555G/C1494T
mutations were detected in 15.38% of adult-onset and
8.86% pediatric-onset patients, respectively. Interestingly,
most GJB2 gene mutation carriers experienced
NSHI onset within the first year of life (65.31%),
while mtDNA A1555G/C1494T mutation carriers
experienced onset at any age. Therefore, GJB2 gene
mutations appear to contribute to congenital deafness,
while mtDNA A1555G/C1494T mutations contribute
mainly to acquired deafness in Chinese individuals.
Both newborn hearing screening and genetic testing
are important to diagnose and treat deafness.
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