Targeted gene capture and massively parallel sequencing to identify causative genes mutations in clinical genetic testing for hereditary hearing loss
SU Yu
TANG Wenxue
DAI Zhiyao
GAO Xue
WANG Guojian
HUANG Shasha
KANG Dongyang
LIN Xi
DAI Pu
Abstract：Objectives To explore the possibility of incorporating Targeted sequence capture,Barcode and MPS into clinical deafness genes diagnosis. This new strategy will allowed a much greater number of samples to be examined with saved the cost and shorten turnaround time. Methods The 96 patients with sensorineural hearing loss were enrolled through the Otolaryngology Department of Chinese PLA General Hospital .We have carried out 42 targeted gene capture and sequenced with MPS for 96 samples, including 8 positive control and 88 samples from 61 families. No patient was found to have any obvi-ous signs of syndromic symptoms and patients with GJB2 mutations, SLC26A4 hot spot mutations, mtDNA1494,1555 muta-tions had been excluded. Detailed family histories, clinical evaluations, temporal bone imaging results, audiograms, and other relevant clinical manifestations were collected for each patient. Results Fourteen variants in 8 different genes were identi-fied, which might have led to SNHI in 4 families compatible with autosomal dominant inheritance , 4 families with autosomal recessive inheritance, and 2 families with X-linked inheritance, including TECTA, EYA4, DFNA5,USH1C, CDH23, MYO7A, SLC26A4. Eight positive control were verified accurately. The families with more than one deaf member which has been enrolled in this genetic research studies, have a higher probability to find causitive mutations. Conclusion The new NGS approach delivers a step change in the diagnosis of inherited hearing loss, a continued refinement of the Targeted genom- ic capture, MPS and Barcode technology will further improve the sequencing accuracy and reduce the cost. These maybe broaden the availability of clinical genetic testing for the individuals with undiagnosed deafness in the future.
Keywords：Hereditary hearing lossTargeted sequence captureBarcodeMassively parallel sequencingBioinformatics
Publication Date：2014-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 45-49 )