Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.
Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.
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我国典型地区非综合征性听力障碍分子病因综合分析
DOI：
10.1186/1479-5876-7-79
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发表时间：
2009-09-10
影响因子：
7.4
通讯作者：
Dai P
中科院分区：
文献类型：
--
作者：
Yuan Y;You Y;Huang D;Cui J;Wang Y;Wang Q;Yu F;Kang D;Yuan H;Han D;Dai P
BackgroundEvery year, 30,000 babies are born with congenital hearing impairment in China. The molecular etiology of hearing impairment in the Chinese population has not been investigated thoroughly. To provide appropriate genetic testing and counseling to families, we performed a comprehensive investigation of the molecular etiology of nonsyndromic deafness in two typical areas from northern and southern China.MethodsA total of 284 unrelated school children with hearing loss who attended special education schools in China were enrolled in this study, 134 from Chifeng City in Inner Mongolia and the remaining 150 from Nangtong City in JiangSu Province. Screening was performed forGJB2,GJB3,GJB6,SLC26A4,12S rRNA,and tRNAser(UCN)genes in this population. All patients withSLC26A4mutations or variants were subjected to high-resolution temporal bone CT scan to verify the enlarged vestibular aqueduct.ResultsMutations in theGJB2gene accounted for 18.31% of the patients with nonsyndromic hearing loss, 1555A>G mutation in mitochondrial DNA accounted for 1.76%, andSLC26A4mutations accounted for 13.73%. Almost 50% of the patients with nonsyndromic hearing loss in these typical Chinese areas carriedGJB2orSLC26A4mutations. No significant differences in mutation spectrum or prevalence ofGJB2andSLC26A4were found between the two areas.ConclusionIn this Chinese population, 54.93% of cases with hearing loss were related to genetic factors. TheGJB2gene accounted for the etiology in about 18.31% of the patients with hearing loss,SLC26A4accounted for about 13.73%, andmtDNA1555A>G mutation accounted for 1.76%. Mutations inGJB3, GJB6, andmtDNA tRNAser(UCN)were not common in this Chinese cohort. Conventionally, screening is performed forGJB2,SLC26A4, and mitochondrial12S rRNAin the Chinese deaf population.
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影响因子：
5.3
作者：
Guan, MX;Enriquez, JA;Attardi, G
通讯作者：
Attardi, G
影响因子：
4
作者：
del Castillo, FJ;Rodríguez-Ballesteros, M;del Castillo, I
通讯作者：
del Castillo, I
影响因子：
5.2
作者：
Jacobs, HT;Hutchin, TP;Mueller, RF
通讯作者：
Mueller, RF
影响因子：
158.5
作者：
del Castillo, I;Villamar, M;Moreno, F
通讯作者：
Moreno, F
三个中国家庭中与线粒体 12S rRNA T1095C 突变相关的耳聋外显率极低。
DOI：
10.1016/j.bbrc.2006.07.031
发表时间：
2006-09-15
影响因子：
3.1
作者：
Dai, Pu;Yuan, Yongyi;Guan, Min-Xin
通讯作者：
Guan, Min-Xin