期刊
AURIS NASUS LARYNX
卷 32, 期 2, 页码 113-117出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.anl.2005.01.011
关键词
COL9A3; hearing loss; mutation screening
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.
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