| 게재년월 |
2022/04 |
| 논문제목 |
Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation
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| 참여교수 |
지헌영
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| 학술지명 |
HUMAN GENETICS |
| 초록 |
Ski-slope hearing loss (HL), which refers to increased auditory threshold at high frequencies, is common in adults. However, genetic contributions to this post-lingual HL remain largely unknown. Here, we prospectively investigated deafness-associated and novel candidate genes causing ski-slope HL. We analyzed 192 families with post-lingual HL via gene panel and/or exome sequencing. With an overall molecular diagnostic rate of 35.4% (68/192) in post-lingual HL, ski-slope HL showed a lower diagnostic rate (30.7%) compared with other conditions (40.7%). In patients who showed HL onset before the age of 40, genetic diagnostic probability was significantly lower for ski-slope HL than for other conditions. Further analysis of 51 genetically undiagnosed patients in the ski-slope HL group identified three variants in delta-like ligand 1 (DLL1), a Notch ligand, which presented in vitro gain-of-function effects on Notch downstream signaling. In conclusion, genetic diagnostic rates in post-lingual HL varied according to audiogram patterns with age-of-onset as a confounding factor. DLL1 was identified as a candidate gene causing ski-slope HL. |
| 게재정보 |
Hum Genet. 2022 Apr;141(3-4):915-927 |
| 총저자명 |
John Hoon Rim, Byunghwa Noh, Young Ik Koh, Sun Young Joo, Kyung Seok Oh, Kyumin Kim, Jung Ah Kim, Da Hye Kim, Hye-Youn Kim, Jee Eun Yoo, Seung-Tae Lee, Jin Woong Bok, Min Goo Lee, Jinsei Jung, Jae Young Choi, Heon Yung Gee
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