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首页> 外文期刊>Genomics >A 3-nucleotide deletion in the polypyrimidine tract of intron 7 of the DFNA5 gene causes nonsyndromic hearing impairment in a Chinese family.
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A 3-nucleotide deletion in the polypyrimidine tract of intron 7 of the DFNA5 gene causes nonsyndromic hearing impairment in a Chinese family.

机译：DFNA5基因内含子7的多嘧啶束中的3个核苷酸缺失导致中国家庭的非综合征性听力障碍。

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摘要

Nonsyndromic inherited hearing impairment is genetically heterogeneous. Up to now, approximately 51 autosomal dominant loci implicated in nonsyndromic forms of hearing impairment have been reported in humans and 17 causative genes have been identified. Skipping of exon 8 in the DFNA5 gene has been shown to cause hearing impairment in a Dutch family. To our knowledge, no other DFNA5 mutation has been reported in familial or sporadic hearing impairment. Here, we report another mutation in DFNA5, a CTT deletion in the polypyrimidine tract of intron 7. This mutation, just like the previously reported mutation in the Dutch family, leads to skipping of exon 8 of DFNA5. In addition, we prove the existence of a recently identified short isoform of DFNA5, but the 3-nucleotide deletion reported here seems not to affect the function of this short isoform. Because no other mutation in any other part of DFNA5 has ever been described, this finding might indicate that exon 8 of DFNA5 is indispensable for the development of hearing impairment.
机译：非综合征遗传性听力障碍在遗传上是异质的。迄今为止，在人类中已经报道了约51个常染色体显性位点，涉及非综合征形式的听力障碍，并鉴定出17个致病基因。 DFNA5基因中外显子8的跳过已显示会导致荷兰家庭的听力受损。据我们所知，家族或偶发性听力障碍尚无其他DFNA5突变的报道。在这里，我们报道了DFNA5的另一个突变，这是内含子7的多嘧啶束中的CTT缺失。就像以前在荷兰家庭中报道的突变一样，该突变导致DFNA5外显子8的跳跃。此外，我们证明了最近鉴定出的DFNA5短异构体的存在，但是此处报道的3个核苷酸的缺失似乎并不影响该短异构体的功能。因为从未描述过DFNA5其他任何部分的其他突变，所以这一发现可能表明DFNA5的外显子8对于听力障碍的发展是必不可少的。

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