title: Mutation analysis of COL9A3, a gene highly expressed in the cochlea, in hearing loss patients.
abstract: 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.
authors.affiliation: Department of Otorhinolaryngology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan.
authors.forename: Kenji
authors.initials: K
authors.lastname: Asamura
authors.forename: Satoko
authors.initials: S
authors.lastname: Abe
authors.forename: Hisakuni
authors.initials: H
authors.lastname: Fukuoka
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Nakamura
authors.forename: Shin-ichi
authors.initials: S
authors.lastname: Usami
mesh_terms: D000595:Amino Acid Sequence; D001224:Aspartic Acid; D001483:Base Sequence; D003051:Cochlea / Q000378:metabolism*; D024081:Collagen Type IX / Q000235:genetics*; D004252:DNA Mutational Analysis; D017353:Gene Deletion; D018698:Glutamic Acid; D005998:Glycine; D006319:Hearing Loss, Sensorineural / Q000235:genetics* / Q000378:metabolism*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D020125:Mutation, Missense; D010375:Pedigree; D011392:Proline
chemical_list: C120768:COL9A3 protein, human; D024081:Collagen Type IX; D001224:Aspartic Acid; D018698:Glutamic Acid; D011392:Proline; D005998:Glycine