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Min Kyeong Kim  (Kim MK) 2 Articles
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
  • 4,857 View
  • 49 Download
  • 5 Web of Science
  • 6 Crossref
AbstractAbstract PDFPubReader   

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.


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.


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).


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 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
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
  • 4,601 View
  • 30 Download
  • 12 Crossref
AbstractAbstract PDFPubReader   

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.


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.


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.


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 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

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