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1 "Bardet-Biedl syndrome"
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Genetics
Identification of Two Cases of Ciliopathy-Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing
Min Kyeong Kim, Soo Heon Kwak, Shinae Kang, Hye Seung Jung, Young Min Cho, Seong Yeon Kim, Kyong Soo Park
Diabetes Metab J. 2015;39(5):439-443.   Published online October 22, 2015
DOI: https://doi.org/10.4093/dmj.2015.39.5.439
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  • 5 Web of Science
  • 6 Crossref
AbstractAbstract PDFPubReader   
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.

Citations

Citations to this article as recorded by  
  • Genotype–phenotype associations in Alström syndrome: a systematic review and meta-analysis
    Brais Bea-Mascato, Diana Valverde
    Journal of Medical Genetics.2024; 61(1): 18.     CrossRef
  • Differentiating monogenic and syndromic obesities from polygenic obesity: Assessment, diagnosis, and management
    Angela K. Fitch, Sonali Malhotra, Rushika Conroy
    Obesity Pillars.2024; 11: 100110.     CrossRef
  • Whole exome sequencing identifies rare biallelic ALMS1 missense and stop gain mutations in familial Alström syndrome patients
    Naglaa M. Kamal, Ahmed N. Sahly, Babajan Banaganapalli, Omran M. Rashidi, Preetha J. Shetty, Jumana Y. Al-Aama, Noor A. Shaik, Ramu Elango, Omar I. Saadah
    Saudi Journal of Biological Sciences.2020; 27(1): 271.     CrossRef
  • Established and emerging strategies to crack the genetic code of obesity
    V. Tam, M. Turcotte, D. Meyre
    Obesity Reviews.2019; 20(2): 212.     CrossRef
  • Identifying Pathogenic Variants of Monogenic Diabetes Using Targeted Panel Sequencing in an East Asian Population
    Seung Shin Park, Se Song Jang, Chang Ho Ahn, Jung Hee Kim, Hye Seung Jung, Young Min Cho, Young Ah Lee, Choong Ho Shin, Jong Hee Chae, Jae Hyun Kim, Sung Hee Choi, Hak C Jang, Jee Cheol Bae, Jong Cheol Won, Sung-Hoon Kim, Jong-Il Kim, Soo Heon Kwak, Kyong
    The Journal of Clinical Endocrinology & Metabolism.2019; 104(9): 4188.     CrossRef
  • Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes
    Sheila Castro-Sánchez, María Álvarez-Satta, Mohamed A. Tohamy, Sergi Beltran, Sophia Derdak, Diana Valverde, Anand Swaroop
    PLOS ONE.2017; 12(8): e0183081.     CrossRef

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