In:
Audiology and Neurotology, S. Karger AG, Vol. 15, No. 2 ( 2010), p. 81-87
Abstract:
The crucial role of gap junctions, which are composed of connexin (Cx) protein, in auditory functions has been confirmed by numerous studies. Cx29 is a relatively new member of the Cx protein family. In this article, we report variants of the 〈 i 〉 Cx29 〈 /i 〉 gene in 253 unrelated Taiwanese patients with nonsyndromic hearing loss. Thirteen (5.14%) of the 253 patients had variants of 〈 i 〉 Cx29 〈 /i 〉 . Five sequence changes (c.43C→G, c.230G→C, c.525T→G, c.781 + 62G→A and c.*2T→G) in the 〈 i 〉 Cx29 〈 /i 〉 gene were detected in the study, of which 3 (c.43C→G, c.230G→C and c.525T→G) were novel variants. One novel compound heterozygote missense variant, c.[43C→G(+) 230G→C], was identified in the 〈 i 〉 Cx29 〈 /i 〉 gene carried by 1 patient, and this variant appears to have been inherited from the mother’s chromosome. In addition, for diagnostic purposes, we developed a restriction fragment length polymorphism method using 〈 i 〉 Nae 〈 /i 〉 I and 〈 i 〉 Sty 〈 /i 〉 I to identify c.43C→G and c.525T→G specific variants of the 〈 i 〉 Cx29 〈 /i 〉 gene, respectively. On the basis of the above results, we suggest that the c.[43C→G(+)230G→C] compound heterozygous variant of 〈 i 〉 Cx29 〈 /i 〉 may be a risk factor for the development of hearing loss in Taiwanese and that the restriction fragment length polymorphism method developed will be clinically useful in identifying variants of the 〈 i 〉 Cx29 〈 /i 〉 gene in patients with hearing loss.
Type of Medium:
Online Resource
ISSN:
1420-3030
,
1421-9700
Language:
English
Publisher:
S. Karger AG
Publication Date:
2010
detail.hit.zdb_id:
1481979-X
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