지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2015.9
- 수록면
- 781 - 788 (8page)
- DOI
- 10.14348/molcells.2015.0078
이용수
초록· 키워드
오류제보하기
Mutations of MYO15A are generally known to cause severe to profound hearing loss throughout all frequencies. Here, we found two novel MYO15A mutations, c.3871C>T (p.L1291F) and c.5835T>G (p.Y1945X) in an affected individual carrying congenital profound sensorineural hearing loss (SNHL) through targeted resequencing of 134 known deafness genes. The variant, p.L1291F and p.Y1945X, resided in the myosin motor and IQ2 domains, respectively.
The p.L1291F variant was predicted to affect the structure of the actin-binding site from three-dimensional protein modeling, thereby interfering with the correct interaction between actin and myosin. From the literature analysis, mutations in the N-terminal domain were more frequently associated with residual hearing at low frequencies than mutations in the other regions of this gene. Therefore we suggest a hypothetical genotype-phenotype correlation whereby MYO15A mutations that affect domains other than the N-terminal domain, lead to profound SNHL throughout all frequencies and mutations that affect the N-terminal domain, result in residual hearing at low frequencies. This genotype-phenotype correlation suggests that preservation of residual hearing during auditory rehabilitation like cochlear implantation should be intended for those who carry mutations in the N-terminal domain and that individuals with mutations elsewhere in MYO15A require early cochlear implantation to timely initiate speech development.
목차
등록된 정보가 없습니다.
참고문헌 (43)
참고문헌 신청
Abecasis, G. R. / 2001 / GRR : graphical representation of relationship errors / Bioinformatics 17:742~743
Bahler, M. / 2002 / Calmodulin signaling via the IQ motif / FEBS Lett 513:107~113
Bashir, R. / 2012 / Prioritized sequencing of the second exon of MYO15A reveals a new mutation segregating in a Pakistani family with moderate to severe hearing loss / Eur. J. Med. Genet 55:99~102
Belguith, H. / 2009 / Screening of the DFNB3 locus : identification of three novel mutations of MYO15A associated with hearing loss and further suggestion for two distinctive genes on this locus / Genet. Test. Mol. Biomarkers 13:147~151
Belyantseva, I. A. / 2003 / Myosin XVa localizes to the tips of inner ear sensory cell stereocilia and is essential for staircase formation of the hair bundle / Proc. Natl. Acad. Sci. USA 100:13958~13963
Bahler, M. / 2002 / Calmodulin signaling via the IQ motif / FEBS Lett 513:107~113
Bashir, R. / 2012 / Prioritized sequencing of the second exon of MYO15A reveals a new mutation segregating in a Pakistani family with moderate to severe hearing loss / Eur. J. Med. Genet 55:99~102
Belguith, H. / 2009 / Screening of the DFNB3 locus : identification of three novel mutations of MYO15A associated with hearing loss and further suggestion for two distinctive genes on this locus / Genet. Test. Mol. Biomarkers 13:147~151
Belyantseva, I. A. / 2003 / Myosin XVa localizes to the tips of inner ear sensory cell stereocilia and is essential for staircase formation of the hair bundle / Proc. Natl. Acad. Sci. USA 100:13958~13963
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