https://scholars.lib.ntu.edu.tw/handle/123456789/474460
標題: | Identifying children with poor cochlear implantation outcomes using massively parallel sequencing | 作者: | Chen-Chi Wu Lin Y.-H. TIEN-CHEN LIU Lin K.-N. WEI-SHIUNG YANG Hsu C.-J. PEI-LUNG CHEN Wu C.-M. |
公開日期: | 2015 | 出版社: | Lippincott Williams and Wilkins | 卷: | 94 | 期: | 27 | 來源出版物: | Medicine (United States) | 摘要: | Cochlear implantation is currently the treatment of choice for children with severe to profound hearing impairment. However, the outcomes with cochlear implants (CIs) vary significantly among recipients. The purpose of the present study is to identify the genetic determinants of poor CI outcomes. Twelve children with poor CI outcomes (the "cases") and 30 "matched controls" with good CI outcomes were subjected to comprehensive genetic analyses using massively parallel sequencing, which targeted 129 known deafness genes. Audiological features, imaging findings, and auditory/speech performance with CIs were then correlated to the genetic diagnoses. We identified genetic variants which are associated with poor CI outcomes in 7 (58%) of the 12 cases; 4 cases had bi-allelic PCDH15 pathogenic mutations and 3 cases were homozygous for the DFNB59 p.G292R variant. Mutations in the WFS1, GJB3, ESRRB, LRTOMT, MYO3A, and POU3F4 genes were detected in 7 (23%) of the 30 matched controls. The allele frequencies of PCDH15 and DFNB59 variants were significantly higher in the cases than in the matched controls (both P<0.001). In the 7 CI recipients with PCDH15 or DFNB59 variants, otoacoustic emissions were absent in both ears, and imaging findings were normal in all 7 implanted ears. PCDH15 or DFNB59 variants are associated with poor CI performance, yet children with PCDH15 or DFNB59 variants might show clinical features indistinguishable from those of other typical pediatric CI recipients. Accordingly, genetic examination is indicated in all CI candidates before operation. ? 2015 Wolters Kluwer Health, Inc. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-84941144869&doi=10.1097%2fMD.0000000000001073&partnerID=40&md5=45a74b68c2be7fabcf93ddded0be2e9b https://scholars.lib.ntu.edu.tw/handle/123456789/474460 |
ISSN: | 0025-7974 | DOI: | 10.1097/MD.0000000000001073 | SDG/關鍵字: | connexin 31; dfnb59 protein; esrrb protein; lrtomt protein; myo3a protein; pcdh15 protein; pou3f4 protein; protein; unclassified drug; wfs1 protein; cadherin; DFNB59 protein, human; nerve protein; PCDH15 protein, human; Article; audiology; child; clinical article; clinical feature; cochlear implantation; cochlear nerve hypoplasia; controlled study; female; gene frequency; gene mutation; genetic analysis; genetic variability; hearing; hearing impairment; homozygosity; human; male; massively parallel sequencing; nonsense mutation; otoacoustic emission; perception deafness; preschool child; priority journal; recipient; sequence analysis; speech; speech perception; vestibulocochlear nerve disease; audiometry; cochlear implantation; genetics; genotype; Hearing Loss; Hearing Loss, Sensorineural; high throughput sequencing; procedures; treatment outcome; Audiometry; Cadherins; Child, Preschool; Cochlear Implantation; Female; Gene Frequency; Genotype; Hearing Loss; Hearing Loss, Sensorineural; High-Throughput Nucleotide Sequencing; Humans; Male; Nerve Tissue Proteins; Speech; Treatment Outcome |
顯示於: | 醫學系 |
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