GJB2 gene knockout mice led to death during embryonic period.

GJB2基因敲除小鼠在胚胎期致死。

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Conclusion: GJB2 gene mutations also exist in Chinese NSHI patients.

结论：中国人NSHI患者也存在GJB2基因的突变。

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Furthermore, none of mutation in deafness-associated GJB2 gene was detected in this Chinese family.

同时，在该家系中未发现GJB2基因及其他线粒体基因突变。

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Objective:To examine mutation in the partial coding region of GJB2 gene in 43 cases of Chinese patients with non syndromic hearing impairment (NSHI).

目的：分析43例中国人非综合征性听力减退（NSHI）患者的GJB2基因部分编码区的突变的情况。

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This study also found the dominant GJB2 gene mutations in three families. Finally, corrected the name of a mutation, further enriched the content of GJB2 gene mutations.

本研究同时还发现了GJB2基因突变所致的三个显性遗传家系，最后对一种突变命名进行了校正，进一步丰富了GJB2基因突变相关内容。

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Conclusion the mutations in GJB2 are the major cause of prelingual deafness; two causative mutations can be found in (28.6%) prelingual recessive and in (18.9%) prelingual sporadic NSHL patients.

结论GJB2突变是导致学语前聋的主要原因，28.6%的学语前隐性和18.9%学语前散发非综合征性耳聋病人携带了两个GJB2突变。

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Conclusion the mutations in GJB2 are the major cause of prelingual deafness; two causative mutations can be found in (28.6%) prelingual recessive and in (18.9%) prelingual sporadic NSHL patients.

结论GJB2突变是导致学语前聋的主要原因，28.6%的学语前隐性和18.9%学语前散发非综合征性耳聋病人携带了两个GJB2突变。

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