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Identification of Two Cases of Ciliopathy-Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing

DC FieldValueLanguage
dc.contributor.author강신애-
dc.date.accessioned2016-02-04T11:52:42Z-
dc.date.available2016-02-04T11:52:42Z-
dc.date.issued2015-
dc.identifier.issn2233-6079-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/141401-
dc.description.abstractBACKGROUND: Alström syndrome and Bardet-Biedl syndrome are autosomal recessively inherited ciliopathies with common characteristics of obesity, diabetes, and blindness. Alström syndrome is caused by a mutation in the ALMS1 gene, and Bardet-Biedl syndrome is caused by mutations in BBS1-16 genes. Herein we report genetically confirmed cases of Alström syndrome and Bardet-Biedl syndrome in Korea using whole exome sequencing. METHODS: Exome capture was done using SureSelect Human All Exon Kit V4+UTRs (Agilent Technologies). HiSeq2000 system (Illumina) was used for massive parallel sequencing. Sanger sequencing was used for genotype confirmation and familial cosegregation analysis. RESULTS: A 21-year old Korean woman was clinically diagnosed with Alström syndrome. She had diabetes, blindness, obesity, severe insulin resistance, and hearing loss. Whole exome sequencing revealed a nonsense mutation in exon 10 of ALMS1 (c.8776C>T, p.R2926X) and a seven base-pair deletion resulting in frameshift mutation in exon 8 (c.6410_6416del, p.2137_2139del). A 24-year-old Korean man had Bardet-Biedl syndrome with diabetes, blindness, obesity, and a history of polydactyly. Whole exome sequencing revealed a nonsynonymous mutation in exon 11 of the BBS1 gene (c.1061A>G, p.E354G) and mutation at the normal splicing recognition site of exon 7 of the BBS1 gene (c.519-1G>T). CONCLUSION: We found novel compound heterozygous mutations of Alström syndrome and Bardet-Biedl syndrome using whole exome sequencing. The whole exome sequencing successfully identified novel genetic variants of ciliopathy-associated diabetes.-
dc.description.statementOfResponsibilityopen-
dc.format.extent439~443-
dc.relation.isPartOfDIABETES & METABOLISM JOURNAL-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.titleIdentification of Two Cases of Ciliopathy-Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Internal Medicine (내과학)-
dc.contributor.googleauthorMin Kyeong Kim-
dc.contributor.googleauthorSoo Heon Kwak-
dc.contributor.googleauthorShinae Kang-
dc.contributor.googleauthorHye Seung Jung-
dc.contributor.googleauthorYoung Min Cho-
dc.contributor.googleauthorSeong Yeon Kim-
dc.contributor.googleauthorKyong Soo Park-
dc.identifier.doi10.4093/dmj.2015.39.5.439-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.contributor.localIdA00052-
dc.relation.journalcodeJ00720-
dc.identifier.eissn2233-6087-
dc.identifier.pmid26566502-
dc.subject.keywordALMS1-
dc.subject.keywordAlstrom syndrome-
dc.subject.keywordBBS1-
dc.subject.keywordBardet-Biedl syndrome-
dc.subject.keywordCiliopathy-
dc.subject.keywordDiabetes mellitus-
dc.subject.keywordNext generation sequencing-
dc.subject.keywordSanger sequencing-
dc.subject.keywordWhole exome sequencing-
dc.contributor.alternativeNameKang, Shin Ae-
dc.contributor.affiliatedAuthorKang, Shin Ae-
dc.rights.accessRightsfree-
dc.citation.volume39-
dc.citation.number5-
dc.citation.startPage439-
dc.citation.endPage443-
dc.identifier.bibliographicCitationDIABETES & METABOLISM JOURNAL, Vol.39(5) : 439-443, 2015-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers

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