期刊
NEURAL PLASTICITY
卷 2020, 期 -, 页码 -出版社
HINDAWI LTD
DOI: 10.1155/2020/6350479
关键词
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资金
- National Key RAMP
- D Program of China [2017YFC1001804]
- National Science Foundation of China [81730028, 81702643]
- Shanghai Municipal Science and Technology Commission [14DZ2260300]
- Shanghai Municipal Education Commission-Gaofeng Clinical Medicine Grant [20152519]
- Science Project of Shanghai Municipal Commission of Health and Family Planning [201540173]
Hearing loss is a highly heterogeneous disorder, with more than 60% of congenital cases caused by genetic factors. This study is aimed at identifying the genetic cause of congenital hearing loss in a Chinese Han family. Auditory evaluation before and after cochlear implantation and targeted next-generation sequencing of 140 deafness-related genes were performed for the deaf proband. Compound heterozygous mutations c.3658_3662del (p. E1221Wfs*23) and c.6177+1G>T were identified inMYO15Aas the only candidate pathogenic mutations cosegregated with the hearing loss in this family. These two variants were absent in 200 normal-hearing Chinese Hans and were classified as likely pathogenic and pathogenic, respectively, based on the ACMG guideline. Our study further expanded the mutation spectrum ofMYO15Aas the c.3658_3662del mutation is novel and confirmed that deaf patients with recessiveMYO15Amutations have a good outcome for cochlear implantation.
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