Diabetes & Metabolism Journal

Brief Report

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

4,492 View
48 Download
5 Web of Science
6 Crossref

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; : 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

Original Article

Bone Mineral Density in Prediabetic Men: Ju Hee Lee, Yun Hyeong Lee, Kyoung Hye Jung, Min Kyeong Kim, Hye Won Jang, Tae Kyun Kim, Hyun Jin Kim, Young Suk Jo, Minho Shong, Tae Yong Lee, Bon Jeong Ku; Korean Diabetes J. 2010;34(5):294-302. Published online October 31, 2010; DOI: https://doi.org/10.4093/kdj.2010.34.5.294

4,442 View
30 Download
12 Crossref

Abstract PDF PubReader

Background

There are many studies regarding the effects of insulin on bone metabolism and changes in bone mineral density (BMD) in the setting of diabetes. The effect of prediabetes on BMD is not known.

Methods

A total of 802 men participated in the Korea Rural Genomic Cohort Study (in Geumsan County). According to the results of an oral glucose tolerance test, subjects were classified into normal, prediabetic, and diabetic categories. One hundred twenty-four subjects diagnosed with type 2 diabetes were excluded, leaving 678 subjects for the study inclusion. BMD was estimated with a quantitative ultrasonometer.

Results

The average BMD T scores of normal and prediabetic subjects were -1.34 ± 1.42 and -1.33 ± 1.30, respectively; there was no significant difference in the BMD T scores between these groups. The BMD T score was inversely associated with age and positively correlated with body weight, body mass index, total cholesterol, low density lipoprotein cholesterol, and HbA1c. On multiple linear regression analysis, low density lipoprotein cholesterol was the only statistically significant variable for prediabetes (β = 0.007, P = 0.005). On the stepwise regression analysis, age (β = -0.026, P < 0.001), the body mass index (β = 0.079, P < 0.001), and low density lipoprotein cholesterol (β = 0.004, P = 0.016) were significant variables for prediabetes.

Conclusions

There was no significant difference in the BMD T score between the normal and prediabetic subjects. Further studies are needed regarding the association of fracture risk and changes in BMD with the development of overt diabetes.

Citations

Citations to this article as recorded by

More Rapid Bone Mineral Density Loss in Older Men With Diabetes: The Osteoporotic Fractures in Men (MrOS) Study
Flavia Tramontana, Nicola Napoli, Stephanie Litwack-Harrison, Douglas C Bauer, Eric S Orwoll, Jane A Cauley, Elsa S Strotmeyer, Ann V Schwartz
The Journal of Clinical Endocrinology & Metabolism.2024;[Epub] CrossRef
Prediabetes and skeletal health
Catherine Lindsay, Albert Shieh
Current Opinion in Endocrinology, Diabetes & Obesity.2023; 30(4): 200. CrossRef
Serum levels of sclerostin in prediabetes and its correlation with bone mineral density
Ajay Chauhan, Manoj Kumar Bhakhar, Parul Goyal
Journal of Family Medicine and Primary Care.2023; 12(11): 2702. CrossRef
The risk of hip fractures in individuals over 50 years old with prediabetes and type 2 diabetes – A longitudinal nationwide population-based study
Ho Youn Park, Kyoungdo Han, Youngwoo Kim, Yoon Hwan Kim, Yoo Joon Sur
Bone.2021; 142: 115691. CrossRef
Bone health in diabetes and prediabetes
Silvia Costantini, Caterina Conte
World Journal of Diabetes.2019; 10(8): 421. CrossRef
Bone mineral density in obese children with prediabetes
Ala ÜSTYOL, Mehmet Emre ATABEK
Ege Tıp Dergisi.2018; 57(2): 94. CrossRef
The Prevalence of Osteopenia and Osteoporosis Among Malaysian Type 2 Diabetic Patients Using Quantitative Ultrasound Densitometer
Shaymaa Abdalwahed Abdulameer, Mohanad Naji Sahib, Syed Azhar Syed Sulaiman
The Open Rheumatology Journal.2018; 12(1): 50. CrossRef
An association between bone mineral density and anabolic hormones in middle-aged and elderly men with prediabetes
Michał Rabijewski, Lucyna Papierska, Paweł Piątkiewicz
The Aging Male.2017; : 1. CrossRef
Amplification of transcutaneous and percutaneous bone-conduction devices with a test-band in an induced model of conductive hearing loss
Marn Joon Park, Jae Ryung Lee, Chan Joo Yang, Myung Hoon Yoo, In Suk Jin, Chi Ho Choi, Hong Ju Park
International Journal of Audiology.2016; 55(11): 653. CrossRef
Osteoporosis in Men with Diabetes Mellitus
Claire Issa, Mira S. Zantout, Sami T. Azar
Journal of Osteoporosis.2011; 2011: 1. CrossRef
Response: Bone Mineral Density in Prediabetic Men (Korean Diabetes J 2010;34:294-302)
Ju Hee Lee, Hyun Jin Kim, Bon Jeong Ku
Korean Diabetes Journal.2010; 34(6): 386. CrossRef
Letter: Bone Mineral Density in Prediabetic Men (Korean Diabetes J 2010;34:294-302)
Chul-Hee Kim
Korean Diabetes Journal.2010; 34(6): 384. CrossRef

First
Prev
Page of 1
Next
Last

Search