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Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report

DC Field Value Language
dc.contributor.author정진세-
dc.contributor.author지헌영-
dc.contributor.author최재영-
dc.date.accessioned2018-07-20T12:00:41Z-
dc.date.available2018-07-20T12:00:41Z-
dc.date.issued2017-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/161633-
dc.description.abstractBACKGROUND: Low-frequency nonsyndromic hearing loss (LF-NSHL) is a rare, inherited disorder. Here, we report a family with LF-NSHL in whom a missense mutation was found in the Wolfram syndrome 1 (WFS1) gene. CASE PRESENTATION: Family members underwent audiological and imaging evaluations, including pure tone audiometry and temporal bone computed tomography. Blood samples were collected from two affected and two unaffected subjects. To determine the genetic background of hearing loss in this family, genetic analysis was performed using whole-exome sequencing. Among 553 missense variants, c.2419A → C (p.Ser807Arg) in WFS1 remained after filtering and inspection of whole-exome sequencing data. This missense mutation segregated with affected status and demonstrated an alteration to an evolutionarily conserved amino acid residue. Audiological evaluation of the affected subjects revealed nonprogressive LF-NSHL, with early onset at 10 years of age, but not to a profound level. CONCLUSION: This is the second report to describe a pathological mutation in WFS1 among Korean patients and the second to describe the mutation in a different ethnic background. Given that the mutation was found in independent families, p.S807R possibly appears to be a "hot spot" in WFS1, which is associated with LF-NSHL.-
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.subject.MESHAdolescent-
dc.subject.MESHAsian Continental Ancestry Group/genetics-
dc.subject.MESHAudiometry-
dc.subject.MESHDeafness/genetics*-
dc.subject.MESHFemale-
dc.subject.MESHHearing Loss, Bilateral/genetics*-
dc.subject.MESHHumans-
dc.subject.MESHMale-
dc.subject.MESHMembrane Proteins/genetics*-
dc.subject.MESHMiddle Aged-
dc.subject.MESHMutation, Missense/genetics*-
dc.subject.MESHRepublic of Korea-
dc.subject.MESHTemporal Bone/diagnostic imaging-
dc.subject.MESHTomography, X-Ray Computed-
dc.subject.MESHWhole Exome Sequencing-
dc.titleWhole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine-
dc.contributor.departmentDept. of Otorhinolaryngology-
dc.contributor.googleauthorHye Ji Choi-
dc.contributor.googleauthorJoon Suk Lee-
dc.contributor.googleauthorSeyoung Yu-
dc.contributor.googleauthorDo Hyeon Cha-
dc.contributor.googleauthorHeon Yung Gee-
dc.contributor.googleauthorJae Young Choi-
dc.contributor.googleauthorJong Dae Lee-
dc.contributor.googleauthorJinsei Jung-
dc.identifier.doi10.1186/s12881-017-0511-7-
dc.contributor.localIdA03742-
dc.contributor.localIdA03971-
dc.contributor.localIdA04173-
dc.relation.journalcodeJ00361-
dc.identifier.eissn1471-2350-
dc.identifier.pmid29258540-
dc.subject.keywordAutosomal dominant-
dc.subject.keywordLow-frequency hearing loss-
dc.subject.keywordNonsyndromic hearing loss-
dc.subject.keywordWFS1-
dc.contributor.alternativeNameJung, Jinsei-
dc.contributor.alternativeNameGee, Heon Yung-
dc.contributor.alternativeNameChoi, Jae Young-
dc.contributor.affiliatedAuthorJung, Jinsei-
dc.contributor.affiliatedAuthorGee, Heon Yung-
dc.contributor.affiliatedAuthorChoi, Jae Young-
dc.citation.volume18-
dc.citation.number1-
dc.citation.startPage151-
dc.identifier.bibliographicCitationBMC MEDICAL GENETICS, Vol.18(1) : 151, 2017-
dc.identifier.rimsid61656-
dc.type.rimsART-
Appears in Collections:
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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