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Seong Yeon Kim  (Kim SY) 3 Articles
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
  • 4,878 View
  • 49 Download
  • 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
Prevalence and Clinical Characteristics of Recently Diagnosed Type 2 Diabetes Patients with Positive Anti-Glutamic Acid Decarboxylase Antibody
Yul Hwangbo, Jin Taek Kim, Eun Ky Kim, Ah Reum Khang, Tae Jung Oh, Hak Chul Jang, Kyong Soo Park, Seong Yeon Kim, Hong Kyu Lee, Young Min Cho
Diabetes Metab J. 2012;36(2):136-143.   Published online April 17, 2012
DOI: https://doi.org/10.4093/dmj.2012.36.2.136
  • 4,872 View
  • 44 Download
  • 16 Crossref
AbstractAbstract PDFPubReader   
Background

Latent autoimmune diabetes in adults (LADA) refers to a specific type of diabetes characterized by adult onset, presence of islet auto-antibodies, insulin independence at the time of diagnosis, and rapid decline in β-cell function. The prevalence of LADA among patients with type 2 diabetes varies from 2% to 20% according to the study population. Since most studies on the prevalence of LADA performed in Korea were conducted in patients who had been tested for anti-glutamic acid decarboxylase antibody (GADAb), a selection bias could not be excluded. In this study, we examined the prevalence and clinical characteristics of LADA among adult patients recently diagnosed with type 2 diabetes.

Methods

We included 462 patients who were diagnosed with type 2 diabetes within 5 years from the time this study was performed. We measured GADAb, fasting insulin level, fasting C-peptide level, fasting plasma glucose level, HbA1c, and serum lipid profiles and collected data on clinical characteristics.

Results

The prevalence of LADA was 4.3% (20/462) among adult patients with newly diagnosed type 2 diabetes. Compared with the GADAb-negative patients, the GADAb-positive patients had lower fasting C-peptide levels (1.2±0.8 ng/mL vs. 2.0±1.2 ng/mL, P=0.004). Other metabolic features were not significantly different between the two groups.

Conclusion

The prevalence of LADA is 4.3% among Korean adult patients with recently diagnosed type 2 diabetes. The Korean LADA patients exhibited decreased insulin secretory capacity as reflected by lower C-peptide levels.

Citations

Citations to this article as recorded by  
  • Utility of Fasting C-Peptide for the Diagnostic Differentiation of Patients with Type 1, Type 2 Diabetes, MODY, and LADA
    Ricardo Alemán-Contreras, Rita A. Gómez-Díaz, Maura E. Noyola-García, Rafael Mondragón-González, Niels Wacher, Aldo Ferreira-Hermosillo
    Life.2024; 14(5): 550.     CrossRef
  • The worldwide prevalence of latent autoimmune diabetes of adults among adult-onset diabetic individuals: a systematic review and meta-analysis
    Deepika Ramu, Selvaraj Ramaswamy, Suresh Rao, Solomon F. D. Paul
    Endocrine.2023; 82(1): 28.     CrossRef
  • Investigation of serum level relationship anti-glutamic acid decarboxylase antibody and inflammatory cytokines (IL1-β, IL-6) with vitamins D in type 2 diabetes
    Vahid Pouresmaeil, Sarmad Mashayekhi, Mohammad Sarafraz Yazdi
    Journal of Diabetes & Metabolic Disorders.2022; 21(1): 181.     CrossRef
  • Recent information on test utilization and intraindividual change in anti-glutamic acid decarboxylase antibody in Korea: a retrospective study
    Rihwa Choi, Wonseo Park, Gayoung Chun, Jiwon Lee, Sang Gon Lee, Eun Hee Lee
    BMJ Open Diabetes Research & Care.2022; 10(3): e002739.     CrossRef
  • Prevalence and factors associated with latent autoimmune diabetes in adults (LADA): a cross-sectional study
    Anselmo M. Manisha, Aminiel R. Shangali, Sayoki G. Mfinanga, Erasto V. Mbugi
    BMC Endocrine Disorders.2022;[Epub]     CrossRef
  • Latent Autoimmune Diabetes in Adults (LADA) and its Metabolic Characteristics among Yemeni Type 2 Diabetes Mellitus Patients
    Dhekra Al-Zubairi, Molham AL-Habori, Riyadh Saif-Ali
    Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy.2021; Volume 14: 4223.     CrossRef
  • Therapeutic approaches for latent autoimmune diabetes in adults: One size does not fit all
    Theocharis Koufakis, Niki Katsiki, Pantelis Zebekakis, George Dimitriadis, Kalliopi Kotsa
    Journal of Diabetes.2020; 12(2): 110.     CrossRef
  • Long‐term effects on glycaemic control and β‐cell preservation of early intensive treatment in patients with newly diagnosed type 2 diabetes: A multicentre randomized trial
    Suk Chon, Sang Youl Rhee, Kyu Jeung Ahn, Sei Hyun Baik, Yongsoo Park, Moon Suk Nam, Kwan Woo Lee, Soon Jib Yoo, Gwanpyo Koh, Dae Ho Lee, Young Seol Kim, Jeong‐Taek Woo
    Diabetes, Obesity and Metabolism.2018; 20(5): 1121.     CrossRef
  • A Global Perspective of Latent Autoimmune Diabetes in Adults
    Rajashree Mishra, Kenyaita M. Hodge, Diana L. Cousminer, Richard D. Leslie, Struan F.A. Grant
    Trends in Endocrinology & Metabolism.2018; 29(9): 638.     CrossRef
  • The prevalence of latent autoimmune diabetes in adults and its correlates in patients with type 2 diabetes in Kerman, Iran [2011]
    Gozashti Mohammad Hossein, Shafiei Maryam, Esmaeilian Saeed, Najafipour Hamid, Mashrouteh Mahdieh
    Diabetes & Metabolic Syndrome: Clinical Research & Reviews.2015; 9(2): 104.     CrossRef
  • Low prevalence of latent autoimmune diabetes in adults in northern India
    A. Sachan, G. Zaidi, R. P. Sahu, S. Agrawal, P. G. Colman, E. Bhatia
    Diabetic Medicine.2015; 32(6): 810.     CrossRef
  • Amelioration of Diabetes-induced Cognitive Deficits by GSK-3β Inhibition is Attributed to Modulation of Neurotransmitters and Neuroinflammation
    Ashok Kumar Datusalia, Shyam Sunder Sharma
    Molecular Neurobiology.2014; 50(2): 390.     CrossRef
  • Successful treatment of latent autoimmune diabetes in adults with Traditional Chinese Medicine: a case report
    Jiaxing Tian, Wenke Liu, Zhong Zhen, Xiaolin Tong
    Journal of Traditional Chinese Medicine.2013; 33(6): 766.     CrossRef
  • Clinical characteristics and insulin independence of Koreans with new‐onset type 2 diabetes presenting with diabetic ketoacidosis
    H. Seok, C. H. Jung, S. W. Kim, M. J. Lee, W. J. Lee, J. H. Kim, B‐W. Lee
    Diabetes/Metabolism Research and Reviews.2013; 29(6): 507.     CrossRef
  • A Case of Latent Autoimmune Diabetes in Adults Developed after Surgical Cure of Growth Hormone Secreting Pituitary Tumor
    Wonjin Kim, Jung Ho Kim, Youngsook Kim, Ji Hye Huh, Su Jin Lee, Mi Sung Park, Eun Yeong Choe, Jeong Kyung Park, Myung Won Lee, Jae Won Hong, Byung Wan Lee, Eun Seok Kang, Bong Soo Cha, Eun Jig Lee, Hyun Chul Lee
    Endocrinology and Metabolism.2012; 27(4): 318.     CrossRef
  • Latent Autoimmune Diabetes in Adults: Autoimmune Diabetes in Adults with Slowly Progressive β-cell Failure
    Hannah Seok, Byung Wan Lee
    Diabetes & Metabolism Journal.2012; 36(2): 116.     CrossRef
Carotid Intimal-Medial Thickness Is Not Increased in Women with Previous Gestational Diabetes Mellitus
Yun Hyi Ku, Sung Hee Choi, Soo Lim, Young Min Cho, Young Joo Park, Kyong Soo Park, Seong Yeon Kim, Hak Chul Jang
Diabetes Metab J. 2011;35(5):497-503.   Published online October 31, 2011
DOI: https://doi.org/10.4093/dmj.2011.35.5.497
  • 3,816 View
  • 40 Download
  • 10 Crossref
AbstractAbstract PDFPubReader   
Background

Gestational diabetes mellitus (GDM) is known to increase the risk of cardiovascular diseases. Measuring the carotid artery intimal-medial thickness (CIMT) is a non-invasive technique used to evaluate early atherosclerosis and to predict future cardiovascular diseases. We examined the association between CIMT and cardiovascular risk factors in young Korean women with previous GDM.

Methods

One hundred one women with previous GDM and 19 women who had normal pregnancies (NP) were recruited between 1999 and 2002. At one year postpartum, CIMT was measured using high-resolution B-mode ultrasonography, and oral glucose tolerance tests were performed. Fasting glucose, glycated hemoglobin A1c (HbA1c), insulin levels and lipid profiles were also measured. CIMTs in the GDM and NP groups were compared, and the associations between CIMT and cardiovascular risk factors were analyzed in the GDM group.

Results

CIMT results of the GDM group were not significantly different from those of the NP group (GDM, 0.435±0.054 mm; NP, 0.460±0.046 mm; P=0.069). In the GDM group, a higher HbA1c was associated with an increase in CIMT after age adjustment (P=0.011). CIMT results in the group with HbA1c >6.0% were higher than those of the normal HbA1c (HbA1c ≤6.0%) (P=0.010). Nine of the patients who are type 2 diabetes mellitus converters within one year postpartum but showed no significant difference in CIMT results compared to NP group.

Conclusion

Higher HbA1c is associated with an increase in CIMT in women with previous GDM. However, CIMT at one year postpartum was not increased in these women compared to that in NP women.

Citations

Citations to this article as recorded by  
  • Women with a history of gestational diabetes mellitus present an accumulation of cardiovascular risk factors at age 46—A birth cohort study
    Evi Bakiris, Kaisu Luiro, Jari Jokelainen, Laure Morin‐Papunen, Sirkka Keinänen‐Kiukaanniemi, Kari Kaikkonen, Terhi Piltonen, Juha S. Tapanainen, Juha Auvinen
    Acta Obstetricia et Gynecologica Scandinavica.2024; 103(7): 1318.     CrossRef
  • The effect of gestational diabetes mellitus on carotid artery intima-media thickness in and after pregnancy: a systematic review and meta-analysis
    Andrea Sonaglioni, Elisabetta Piergallini, Angelo Naselli, Gian Luigi Nicolosi, Anna Ferrulli, Stefano Bianchi, Michele Lombardo, Giuseppe Ambrosio
    Acta Diabetologica.2023;[Epub]     CrossRef
  • Prognostic indicators of persistent carotid intima-media thickness increase in postpartum period in a population of normotensive women with gestational diabetes mellitus
    Andrea Sonaglioni, Gian Luigi Nicolosi, Valentina Esposito, Stefano Bianchi, Michele Lombardo
    European Journal of Obstetrics & Gynecology and Reproductive Biology.2022; 269: 47.     CrossRef
  • Pharmacotherapy for gestational diabetes
    Angelo Maria Patti, Rosaria Vincenza Giglio, Kalliopi Pafili, Manfredi Rizzo, Nikolaos Papanas
    Expert Opinion on Pharmacotherapy.2018; 19(13): 1407.     CrossRef
  • Women with a history of gestational diabetes on long-term follow up have normal vascular function despite more dysglycemia, dyslipidemia and adiposity
    Olubukola Ajala, Louise A. Jensen, Edmond Ryan, Constance Chik
    Diabetes Research and Clinical Practice.2015; 110(3): 309.     CrossRef
  • Gestational Diabetes Mellitus in Korean Women: Similarities and Differences from Other Racial/Ethnic Groups
    Catherine Kim
    Diabetes & Metabolism Journal.2014; 38(1): 1.     CrossRef
  • History of Gestational Diabetes Mellitus and Future Risk of Atherosclerosis in Mid‐life: The Coronary Artery Risk Development in Young Adults Study
    Erica P. Gunderson, Vicky Chiang, Mark J. Pletcher, David R. Jacobs, Charles P. Quesenberry, Stephen Sidney, Cora E. Lewis
    Journal of the American Heart Association.2014;[Epub]     CrossRef
  • Association of Gestational Diabetes Mellitus (GDM) with subclinical atherosclerosis: a systemic review and meta-analysis
    Jing-Wei Li, Si-Yi He, Peng Liu, Lin Luo, Liang Zhao, Ying-Bin Xiao
    BMC Cardiovascular Disorders.2014;[Epub]     CrossRef
  • Cardiovascular Disease Risk in the Offspring of Diabetic Women: The Impact of the Intrauterine Environment
    Laura J. Marco, Kate McCloskey, Peter J. Vuillermin, David Burgner, Joanne Said, Anne-Louise Ponsonby
    Experimental Diabetes Research.2012; 2012: 1.     CrossRef
  • The Association between Carotid Atherosclerosis and Glucose
    Bo Kyung Koo
    Diabetes & Metabolism Journal.2011; 35(5): 466.     CrossRef

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