Identification of Novel TMC1 Compound Heterozygous Mutations Related to Autosomal Recessive Hearing Loss by Targeted Capture Sequencing
<p>Mutations in the transmembrane channel-like gene1 (TMC1) are known to cause autosomal dominant and recessive forms of nonsyndromic hearing loss DFNA36 and vDFNB7/11, respectively. Here, we characterized a 5-year old girl with severe sensorineural hearing loss. By combining targeted capture...
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| Format: | Książka |
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Scientific Journal of Genetics and Gene Therapy - Peertechz Publications,
2016-07-08.
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| LEADER | 00000 am a22000003u 4500 | ||
|---|---|---|---|
| 001 | peertech__10_17352_sjggt_000009 | ||
| 042 | |a dc | ||
| 100 | 1 | 0 | |a Xue Gao |e author |
| 700 | 1 | 0 | |a Sha-Sha Huang |e author |
| 700 | 1 | 0 | |a Yu Su |e author |
| 700 | 1 | 0 | |a Jin-Cao Xu |e author |
| 700 | 1 | 0 | |a Pu Dai |e author |
| 245 | 0 | 0 | |a Identification of Novel TMC1 Compound Heterozygous Mutations Related to Autosomal Recessive Hearing Loss by Targeted Capture Sequencing |
| 260 | |b Scientific Journal of Genetics and Gene Therapy - Peertechz Publications, |c 2016-07-08. | ||
| 520 | |a <p>Mutations in the transmembrane channel-like gene1 (TMC1) are known to cause autosomal dominant and recessive forms of nonsyndromic hearing loss DFNA36 and vDFNB7/11, respectively. Here, we characterized a 5-year old girl with severe sensorineural hearing loss. By combining targeted capture of 140 known deafness genes, next-generation sequencing and bioinformatic analysis, we identified two compound heterozygous mutations TMC1 c.1333C>T (p.R445C) and c.1765A>G (p.M589V) as the disease-causing mutations. Our results indicated that TMC1 c.1333C>T (p.R445C) and c.1765A>G (p.M589V) lead to hearing loss in this family and highlight the power of combining deafness gene capture and next generation sequencing for identification of defective genes in sporadic cases with hearing loss. This approach will facilitate identification of the mutation spectrum of all known deaf genes.</p> | ||
| 540 | |a Copyright © Xue Gao et al. | ||
| 546 | |a en | ||
| 655 | 7 | |a Research Article |2 local | |
| 856 | 4 | 1 | |u https://doi.org/10.17352/sjggt.000009 |z Connect to this object online. |