Cited 0 times in Scipus Cited Count

Significant Mendelian genetic contribution to pediatric mild-to-moderate hearing loss and its comprehensive diagnostic approach

DC Field Value Language
dc.contributor.authorKim, BJ-
dc.contributor.authorOh, DY-
dc.contributor.authorHan, JH-
dc.contributor.authorOh, J-
dc.contributor.authorKim, MY-
dc.contributor.authorPark, HR-
dc.contributor.authorSeok, J-
dc.contributor.authorCho, SD-
dc.contributor.authorLee, SY-
dc.contributor.authorKim, Y-
dc.contributor.authorCarandang, M-
dc.contributor.authorKwon, IS-
dc.contributor.authorLee, S-
dc.contributor.authorJang, JH-
dc.contributor.authorChoung, YH-
dc.contributor.authorLee, S-
dc.contributor.authorLee, H-
dc.contributor.authorHwang, SM-
dc.contributor.authorChoi, BY-
dc.date.accessioned2022-11-23T07:32:42Z-
dc.date.available2022-11-23T07:32:42Z-
dc.date.issued2020-
dc.identifier.issn1098-3600-
dc.identifier.urihttp://repository.ajou.ac.kr/handle/201003/22806-
dc.description.abstractPURPOSE: Timely diagnosis and identification of etiology of pediatric mild-to-moderate sensorineural hearing loss (SNHL) are both medically and socioeconomically important. However, the exact etiologic spectrum remains uncertain. We aimed to establish a genetic etiological spectrum, including copy-number variations (CNVs) and efficient genetic testing pipeline, of this defect. METHODS: A cohort of prospectively recruited pediatric patients with mild-to-moderate nonsyndromic SNHL from 2014 through 2018 (n = 110) was established. Exome sequencing, multiplex ligation-dependent probe amplification (MLPA), and nested customized polymerase chain reaction (PCR) for exclusion of a pseudogene, STRCP, from a subset (n = 83) of the cohort, were performed. Semen analysis was also performed to determine infertility (n = 2). RESULTS: Genetic etiology was confirmed in nearly two-thirds (52/83 = 62.7%) of subjects, with STRC-related deafness (n = 29, 34.9%) being the most prevalent, followed by MPZL2-related deafness (n = 9, 10.8%). This strikingly high proportion of Mendelian genetic contribution was due particularly to the frequent detection of CNVs involving STRC in one-third (27/83) of our subjects. We also questioned the association of homozygous continuous gene deletion of STRC and CATSPER2 with deafness-infertility syndrome (MIM61102). CONCLUSION: Approximately two-thirds of sporadic pediatric mild-to-moderate SNHL have a clear Mendelian genetic etiology, and one-third is associated with CNVs involving STRC. Based on this, we propose a new guideline for molecular diagnosis of these children.-
dc.language.isoen-
dc.subject.MESHChild-
dc.subject.MESHGenetic Testing-
dc.subject.MESHHearing Loss-
dc.subject.MESHHearing Loss, Sensorineural-
dc.subject.MESHHomozygote-
dc.subject.MESHHumans-
dc.subject.MESHIntercellular Signaling Peptides and Proteins-
dc.titleSignificant Mendelian genetic contribution to pediatric mild-to-moderate hearing loss and its comprehensive diagnostic approach-
dc.typeArticle-
dc.identifier.pmid32203226-
dc.identifier.urlhttps://linkinghub.elsevier.com/retrieve/pii/S1098-3600(21)00844-3-
dc.subject.keywordMendelian genetic etiology-
dc.subject.keywordSTRC-
dc.subject.keywordcopy-number variation (CNV)-
dc.subject.keywordmild-to-moderate-
dc.subject.keywordpediatric sensorineural hearing loss (SNHL)-
dc.contributor.affiliatedAuthorJang, JH-
dc.contributor.affiliatedAuthorChoung, YH-
dc.type.localJournal Papers-
dc.identifier.doi10.1038/s41436-020-0774-9-
dc.citation.titleGenetics in medicine : official journal of the American College of Medical Genetics-
dc.citation.volume22-
dc.citation.number6-
dc.citation.date2020-
dc.citation.startPage1119-
dc.citation.endPage1128-
dc.identifier.bibliographicCitationGenetics in medicine : official journal of the American College of Medical Genetics, 22(6). : 1119-1128, 2020-
dc.embargo.liftdate9999-12-31-
dc.embargo.terms9999-12-31-
dc.identifier.eissn1530-0366-
dc.relation.journalidJ010983600-
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Otolaryngology
Files in This Item:
There are no files associated with this item.

qrcode

해당 아이템을 이메일로 공유하기 원하시면 인증을 거치시기 바랍니다.

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

Browse