Cited 5 times in
Identification of Two Cases of Ciliopathy-Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing
DC Field | Value | Language |
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dc.contributor.author | 강신애 | - |
dc.date.accessioned | 2016-02-04T11:52:42Z | - |
dc.date.available | 2016-02-04T11:52:42Z | - |
dc.date.issued | 2015 | - |
dc.identifier.issn | 2233-6079 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/141401 | - |
dc.description.abstract | BACKGROUND: 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.statementOfResponsibility | open | - |
dc.format.extent | 439~443 | - |
dc.relation.isPartOf | DIABETES & METABOLISM JOURNAL | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.title | Identification of Two Cases of Ciliopathy-Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Internal Medicine (내과학) | - |
dc.contributor.googleauthor | Min Kyeong Kim | - |
dc.contributor.googleauthor | Soo Heon Kwak | - |
dc.contributor.googleauthor | Shinae Kang | - |
dc.contributor.googleauthor | Hye Seung Jung | - |
dc.contributor.googleauthor | Young Min Cho | - |
dc.contributor.googleauthor | Seong Yeon Kim | - |
dc.contributor.googleauthor | Kyong Soo Park | - |
dc.identifier.doi | 10.4093/dmj.2015.39.5.439 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A00052 | - |
dc.relation.journalcode | J00720 | - |
dc.identifier.eissn | 2233-6087 | - |
dc.identifier.pmid | 26566502 | - |
dc.subject.keyword | ALMS1 | - |
dc.subject.keyword | Alstrom syndrome | - |
dc.subject.keyword | BBS1 | - |
dc.subject.keyword | Bardet-Biedl syndrome | - |
dc.subject.keyword | Ciliopathy | - |
dc.subject.keyword | Diabetes mellitus | - |
dc.subject.keyword | Next generation sequencing | - |
dc.subject.keyword | Sanger sequencing | - |
dc.subject.keyword | Whole exome sequencing | - |
dc.contributor.alternativeName | Kang, Shin Ae | - |
dc.contributor.affiliatedAuthor | Kang, Shin Ae | - |
dc.rights.accessRights | free | - |
dc.citation.volume | 39 | - |
dc.citation.number | 5 | - |
dc.citation.startPage | 439 | - |
dc.citation.endPage | 443 | - |
dc.identifier.bibliographicCitation | DIABETES & METABOLISM JOURNAL, Vol.39(5) : 439-443, 2015 | - |
dc.identifier.rimsid | 30624 | - |
dc.type.rims | ART | - |
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