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Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation

 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 
 HUMAN GENETICS, Vol.141(3-4) : 915-927, 2022-04 
Journal Title
Issue Date
Adult ; Hearing Loss* / diagnosis ; Hearing Loss* / genetics ; Hearing Loss, Sensorineural* / genetics ; Hearing Tests ; Humans ; Ligands ; Pathology, Molecular ; Pedigree ; Whole Exome Sequencing
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.
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Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Anatomy (해부학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Otorhinolaryngology (이비인후과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pharmacology (약리학교실) > 1. Journal Papers
Yonsei Authors
Kim, Hye-Youn(김혜연) ORCID logo https://orcid.org/0000-0003-2090-6427
Bok, Jin Woong(복진웅) ORCID logo https://orcid.org/0000-0003-1958-1872
Lee, Min Goo(이민구) ORCID logo https://orcid.org/0000-0001-7436-012X
Lee, Seung-Tae(이승태) ORCID logo https://orcid.org/0000-0003-1047-1415
Rim, John Hoon(임정훈) ORCID logo https://orcid.org/0000-0001-6825-8479
Jung, Jinsei(정진세) ORCID logo https://orcid.org/0000-0003-1906-6969
Gee, Heon Yung(지헌영) ORCID logo https://orcid.org/0000-0002-8741-6177
Choi, Jae Young(최재영) ORCID logo https://orcid.org/0000-0001-9493-3458
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