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Korean Monozygotic Twins with Lethal Acantholytic Epidermolysis Bullosa Caused by Two Novel DSP Mutations

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dc.contributor.author이경아-
dc.date.accessioned2023-08-09T02:31:57Z-
dc.date.available2023-08-09T02:31:57Z-
dc.date.issued2017-03-
dc.identifier.issn0091-7370-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/195611-
dc.description.abstractDesmoplakin is an essential cytoplasmic plaque protein in desmosomes, and it is the major linker between intercellular junctions in the skin and heart. The role of desmoplakin is anchoring transmembrane cadherins to cytoplasmic intermediate filaments. The desmoplakin gene (DSP) is located on chromosome 6, and six common allelic disorders are associated with this gene, including autosomal-dominant or -recessive disorders that affect the skin, heart, hair, and nails. In particular, lethal acantholytic epidermolysis bullosa (LAEB) is an autosomal recessively inherited and extremely rare genetic skin disorder, and only three molecularly confirmed families with LAEB have been reported previously. Generalized oozing erosion of the entire skin is the main clinical feature, which leads to excessive transcutaneous fluid loss and neonatal death. Histopathologically, this disorder is classified as a suprabasal subtype of epidermolysis bullosa simplex. In this study, we report for the first time in Korea on monozygotic twins with LAEB caused by two novel nonsense mutations in the DSP gene. Both of the twins exhibited severe and rapid progressive whole body skin erosion, and they died shortly after birth because of multiorgan failure followed by excessive fluid loss.-
dc.description.statementOfResponsibilityrestriction-
dc.languageEnglish-
dc.publisherInstitute for Clinical Science-
dc.relation.isPartOfANNALS OF CLINICAL AND LABORATORY SCIENCE-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.subject.MESHBase Sequence-
dc.subject.MESHDesmoplakins / genetics*-
dc.subject.MESHEpidermolysis Bullosa / genetics*-
dc.subject.MESHFamily-
dc.subject.MESHFatal Outcome-
dc.subject.MESHFemale-
dc.subject.MESHHumans-
dc.subject.MESHMale-
dc.subject.MESHMutation / genetics*-
dc.subject.MESHPedigree-
dc.subject.MESHRepublic of Korea-
dc.subject.MESHTwins, Monozygotic / genetics*-
dc.titleKorean Monozygotic Twins with Lethal Acantholytic Epidermolysis Bullosa Caused by Two Novel DSP Mutations-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Laboratory Medicine (진단검사의학교실)-
dc.contributor.googleauthorSe Jin Kim-
dc.contributor.googleauthorJung Min Ko-
dc.contributor.googleauthorSeung Han Shin-
dc.contributor.googleauthorEe-Kyung Kim-
dc.contributor.googleauthorHan-Suk Kim-
dc.contributor.googleauthorKyung-A Lee-
dc.contributor.localIdA02647-
dc.relation.journalcodeJ00155-
dc.identifier.eissn1550-8080-
dc.identifier.pmid28442525-
dc.identifier.urlhttp://www.annclinlabsci.org/content/47/2/213.long-
dc.subject.keywordAcantholysis-
dc.subject.keywordDSP-
dc.subject.keywordDesmoplakin-
dc.subject.keywordEpidermolysis bullosa-
dc.subject.keywordMonozygotic twins-
dc.contributor.alternativeNameLee, Kyung A-
dc.contributor.affiliatedAuthor이경아-
dc.citation.volume47-
dc.citation.number2-
dc.citation.startPage213-
dc.citation.endPage216-
dc.identifier.bibliographicCitationANNALS OF CLINICAL AND LABORATORY SCIENCE, Vol.47(2) : 213-216, 2017-03-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers

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