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- Title
Identification of Two Cases of Ciliopathy- Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing.
- Authors
Min Kyeong Kim; Soo Heon Kwak; Hye Seung Jung; Young Min Cho; Seong Yeon Kim; Kyong Soo Park; Shinae Kang
- Abstract
Background: Alstrom syndrome and Bardet-Biedl syndrome are autosomal recessively inherited ciliopathies with common characteristics of obesity, diabetes, and blindness. Alstrom 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 Alstrom 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 Alstrom syndrome. She had diabetes, blindness, obesity, severe insulin resistance, and hearing loss. Whole exome sequencing revealed a nonsense mutation in exon 10 of ALMS 1 (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-lG>T). Conclusion: We found novel compound heterozygous mutations of Alstrom syndrome and Bardet-Biedl syndrome using whole exome sequencing. The whole exome sequencing successfully identified novel genetic variants of ciliopathy-associated diabetes.
- Subjects
CILIOPATHY; ALSTROM syndrome
- Publication
Diabetes & Metabolism Journal, 2015, Vol 39, Issue 5, p439
- ISSN
2233-6079
- Publication type
Case Study
- DOI
10.4093/dmj.2015.39.5.439