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The TECTA mutation R1890C is identified as one of the causes of genetic hearing loss: a case report

DC FieldValueLanguage
dc.contributor.author이승태-
dc.contributor.author정진세-
dc.contributor.author지헌영-
dc.contributor.author최재영-
dc.contributor.author최종락-
dc.date.accessioned2019-07-11T03:01:57Z-
dc.date.available2019-07-11T03:01:57Z-
dc.date.issued2019-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/169820-
dc.description.abstractBACKGROUND: Many mutations in the α-tectorin gene (TECTA) have been reported to cause non-syndromic hearing loss (NSHL) in either a dominant or recessive inheritance pattern. Among the identified TECTA mutations, H1400Y has been associated with NSHL in two independent studies. However, its exact role in contributing to genetic hearing loss remains elusive. CASE PRESENTATION: We herein report the whole-exome sequencing of a proband presenting with prelingual, non-progressive, mild-to-moderate hearing loss in a simplex family. By using trio-based whole-exome sequencing, we found two heterozygous mutations of R1890C and H1400Y in the ZP and ZA domains of TECTA, respectively. R1890C, previously reported as a pathogenic autosomal dominant mutation of genetic hearing loss, was found to be inherited in a de novo pattern, causing hearing loss in the proband. By contrast, H1400Y was not segregated in this family, and one family member with normal hearing also carried the H1400Y mutation. CONCLUSION: According to the hearing loss-specific American College of Medical Genetics and Genomics (ACMG) guidelines, we conclude that H1400Y should be disqualified as a cause of genetic hearing loss. True pathogenic variants causing genetic hearing loss should be more deliberately reported in accordance with ACMG guidelines.-
dc.description.statementOfResponsibilityopen-
dc.languageEnglish-
dc.publisherBioMed Central-
dc.relation.isPartOfBMC MEDICAL GENETICS-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rightshttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.titleThe TECTA mutation R1890C is identified as one of the causes of genetic hearing loss: a case report-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Laboratory Medicine (진단검사의학교실)-
dc.contributor.googleauthorGi-Sung Nam-
dc.contributor.googleauthorJohn Hoon Rim-
dc.contributor.googleauthorJae Young Choi-
dc.contributor.googleauthorHeon Yung Gee-
dc.contributor.googleauthorJong Rak Choi-
dc.contributor.googleauthorSeung-Tae Lee-
dc.contributor.googleauthorJinsei Jung-
dc.identifier.doi10.1186/s12881-019-0775-1-
dc.contributor.localIdA04627-
dc.contributor.localIdA03742-
dc.contributor.localIdA03742-
dc.contributor.localIdA03971-
dc.contributor.localIdA03971-
dc.contributor.localIdA04173-
dc.contributor.localIdA04173-
dc.contributor.localIdA04182-
dc.contributor.localIdA04182-
dc.relation.journalcodeJ00361-
dc.identifier.eissn1471-2350-
dc.identifier.pmid30935366-
dc.subject.keywordACMG guideline-
dc.subject.keywordCongenital mild hearing loss-
dc.subject.keywordNon-syndromic hearing loss-
dc.subject.keywordTECTA-
dc.subject.keywordTectorin-
dc.contributor.alternativeNameLee, Seung-Tae-
dc.contributor.affiliatedAuthor이승태-
dc.contributor.affiliatedAuthor정진세-
dc.contributor.affiliatedAuthor정진세-
dc.contributor.affiliatedAuthor지헌영-
dc.contributor.affiliatedAuthor지헌영-
dc.contributor.affiliatedAuthor최재영-
dc.contributor.affiliatedAuthor최재영-
dc.contributor.affiliatedAuthor최종락-
dc.contributor.affiliatedAuthor최종락-
dc.citation.volume20-
dc.citation.number1-
dc.citation.startPage57-
dc.identifier.bibliographicCitationBMC MEDICAL GENETICS, Vol.20(1) : 57, 2019-
Appears in Collections:
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

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