Mutation analysis of COL9A3, a gene highly expressed in the cochlea, in hearing loss patients
Mutation analysis of COL9A3, a gene highly expressed in the cochlea, in hearing loss patients
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DOI：
10.1016/j.anl.2005.01.011
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发表时间：
2005-06-01
影响因子：
1.7
通讯作者：
Usami, S
中科院分区：
文献类型：
--
作者：
Asamura, K;Abe, S;Usami, S
基因芯片分析表明，COL9A3基因是耳蜗高表达基因之一。这表明，IX型胶原在内耳中具有重要的功能作用，可能是听力损失的候选基因。进行了突变分析，以寻找该基因可能的致病突变。应用直接测序法对159例非综合征性感音神经性耳聋患者和150例正常对照的COL9A3基因进行了测序。确定了两种可能的致病突变：三个氨基酸残基的框内缺失(G181-P183del)和错义突变(D617E)。这些突变的患者在所有频率上都表现出中度进行性的双侧感音神经性听力损害。目前的数据表明，COL9A3基因突变可能导致非综合征性听力障碍。(C)2005爱思唯尔爱尔兰有限公司。保留所有权利。
cDNA microarray analysis indicated that COL9A3 is one of the highly expressed genes in the cochlea. This suggests that collagen type IX has a crucial functional role in the inner ear and may be a candidate gene for hearing loss. Mutation analysis was carried out to find possible disease-causing mutations in this gene. The direct-sequencing method was applied to the COL9A3 gene in 159 non-syndromic sensorineural deafness patients and 150 normal controls. Two possible disease-causing Mutations were identified: an in-frame deletion of three amino acid residues (G181-P183 del) and a missense mutation (D617E). The patients with the mutations showed a moderate progressive bilateral sensorineural hearing impairment in all frequencies. The present data indicate that mutations of COL9A3 may cause non-syndromic hearing impairment. (c) 2005 Elsevier Ireland Ltd. All rights reserved.