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

4,502 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

Sulwon Lecture 2009

The Search for Genetic Risk Factors of Type 2 Diabetes Mellitus: Kyong Soo Park; Diabetes Metab J. 2011;35(1):12-22. Published online February 28, 2011; DOI: https://doi.org/10.4093/dmj.2011.35.1.12

4,777 View
58 Download
23 Crossref

Abstract PDF PubReader

Type 2 diabetes mellitus (T2DM) is caused by complex interplay between multiple genetic and environmental factors. The three major approaches used to identify the genetic susceptibility include candidate gene approach, familial linkage analysis and genome- wide association analysis. Recent advance in genome-wide association studies have greatly improved our understanding of the pathophysiology of T2DM. As of the end of 2010, there are more than 40 confirmed T2DM-associated genetic loci. Most of the T2DM susceptibility genes were implicated in decreased β-cell function. However, these genetic variations have a modest effect and their combination only explains less than 10% of the T2DM heritability. With the advent of the next-generation sequencing technology, we will soon identify rare variants of larger effect as well as causal variants. These advances in understanding the genetics of T2DM will lead to the development of new therapeutic and preventive strategies and individualized medicine.

Citations

Citations to this article as recorded by

Diabetes: Risk factor and translational therapeutic implications for Alzheimer's disease
Jeffrey Cummings, Andrew Ortiz, Janelle Castellino, Jefferson Kinney
European Journal of Neuroscience.2022; 56(9): 5727. CrossRef
Association of gene polymorphisms with body weight changes in prediabetic patients
Farida V. Valeeva, Mariya S. Medvedeva, Kamilya B. Khasanova, Elena V. Valeeva, Tatyana A. Kiseleva, Emiliya S. Egorova, Craig Pickering, Ildus I. Ahmetov
Molecular Biology Reports.2022; 49(6): 4217. CrossRef
Analysis of the association of FTO, PPARG and PPARGC1A gene polymorphisms with carbohydrate metabolism disorders
Farida V. Valeeva, Kamilya B. Khasanova, Elizaveta A. Sozinova, Tatyana A. Kiseleva, Elena V. Valeeva, Emiliya S. Egorova, Ildus I. Ahmetov
Kazan medical journal.2022; 103(4): 592. CrossRef
Associations between new and old anthropometric indices with type 2 diabetes mellitus and risk of metabolic complications: a cross-sectional analytical study
Parichehr Amiri, Ahmad Zare Javid, Leila Moradi, Neda Haghighat, Rahim Moradi, Hossein Bavi Behbahani, Milad Zarrin, Hadi Bazyar
Jornal Vascular Brasileiro.2021;[Epub] CrossRef
When will individuals meet their personalized probabilities? A philosophical note on risk prediction
Olaf M. Dekkers, Jesse M. Mulder
European Journal of Epidemiology.2020; 35(12): 1115. CrossRef
From Pre-Diabetes to Diabetes: Diagnosis, Treatments and Translational Research
Radia Khan, Zoey Chua, Jia Tan, Yingying Yang, Zehuan Liao, Yan Zhao
Medicina.2019; 55(9): 546. CrossRef
Systematic analysis of genes and diseases using PheWAS-Associated networks
Ali Khosravi, Morteza Kouhsar, Bahram Goliaei, B. Jayaram, Ali Masoudi-Nejad
Computers in Biology and Medicine.2019; 109: 311. CrossRef
Protective effects of asiatic acid in a spontaneous type 2 diabetic mouse model
Wen Sun, Guangyuan Xu, Xuan Guo, Guangbin Luo, Lili Wu, Yi Hou, Xiangyu Guo, Jingxin Zhou, Tunhai Xu, Lingling Qin, Yixin Fan, Li Han, Motlalepula Matsabisa, Xuesheng Ma, Tonghua Liu
Molecular Medicine Reports.2017; 16(2): 1333. CrossRef
Are We in the Same Risk of Diabetes Mellitus? Gender- and Age-Specific Epidemiology of Diabetes in 2001 to 2014 in the Korean Population
Bo Kyung Koo, Min Kyong Moon
Diabetes & Metabolism Journal.2016; 40(3): 175. CrossRef
Efficient Strategy to Identify Gene-Gene Interactions and Its Application to Type 2 Diabetes
Donghe Li, Sungho Won
Genomics & Informatics.2016; 14(4): 160. CrossRef
Genetic polymorphisms associated with overweight and obesity in uncontrolled Type 2 diabetes mellitus
Nor Bahirah Kasim, Hasniza Zaman Huri, Shireene Ratna Vethakkan, Luqman Ibrahim, Bashar Mudhaffar Abdullah
Biomarkers in Medicine.2016; 10(4): 403. CrossRef
A multicenter clinical study to determine the efficacy of a novel fenugreek seed (Trigonella foenum-graecum) extract (Fenfuro™) in patients with type 2 diabetes
Narsingh Verma, Kauser Usman, Naresh Patel, Arvind Jain, Sudhir Dhakre, Anand Swaroop, Manashi Bagchi, Pawan Kumar, Harry G. Preuss, Debasis Bagchi
Food & Nutrition Research.2016; 60(1): 32382. CrossRef
Association between -308G/A TNFA Polymorphism and Susceptibility to Type 2 Diabetes Mellitus: A Systematic Review
Geisa Izetti Luna, Izabel Cristina Rodrigues da Silva, Mauro Niskier Sanchez
Journal of Diabetes Research.2016; 2016: 1. CrossRef
Metabolomics – the complementary field in systems biology: a review on obesity and type 2 diabetes
Mohamad Hafizi Abu Bakar, Mohamad Roji Sarmidi, Kian-Kai Cheng, Abid Ali Khan, Chua Lee Suan, Hasniza Zaman Huri, Harisun Yaakob
Molecular BioSystems.2015; 11(7): 1742. CrossRef
Predictive modeling for incident and prevalent diabetes risk evaluation
Katya L Masconi, Justin Basile Echouffo-Tcheugui, Tandi E Matsha, Rajiv T Erasmus, Andre Pascal Kengne
Expert Review of Endocrinology & Metabolism.2015; 10(3): 277. CrossRef
Polymorphism of gene UBE2E2 and the risk of developing diabetes type 2
Elena Vladimirovna Kazakova, Yanhui Wu, Meijun Chen, Tongtong Wang, Lulu Sun, Hong Qiao
Diabetes mellitus.2015; 18(3): 46. CrossRef
The Architecture of Risk for Type 2 Diabetes: Understanding Asia in the Context of Global Findings
Noraidatulakma Abdullah, John Attia, Christopher Oldmeadow, Rodney J. Scott, Elizabeth G. Holliday
International Journal of Endocrinology.2014; 2014: 1. CrossRef
Translational medicine as a new clinical tool and application which improves metabolic diseases: perspectives from 2012 Sino‐American symposium on clinical and translational medicine
Lin Shi, Elena López Villar, Chengshui Chen
Clinical and Translational Medicine.2014;[Epub] CrossRef
Frequency of Fat Mass and Obesity-Associated Gene rs9939609 and Peroxisome Proliferator-Activated Receptor Gamma 2 Gene rs1801282 Polymorphisms among Trinidadian Neonates of Different Ethnicities and Their Relationship to Anthropometry at Birth
Candace E. Cuthbert, D. Dan Ramdath, Jerome E. Foster
Lifestyle Genomics.2014; 7(1): 39. CrossRef
Genetics of type 2 diabetes and potential clinical implications
Soo Heon Kwak, Kyong Soo Park
Archives of Pharmacal Research.2013; 36(2): 167. CrossRef
Genetics in Diabetes Mellitus - Contribution to the Classification and Management
Jeesuk Yu
Annals of Pediatric Endocrinology & Metabolism.2012; 17(4): 211. CrossRef
Genome-wide association studies with metabolomics
Jerzy Adamski
Genome Medicine.2012; 4(4): 34. CrossRef
Typ-2-Diabetes-assoziierte Gene
J. Kriebel, H. Grallert, T. Illig
Der Diabetologe.2012; 8(1): 26. CrossRef

First
Prev
Page of 1
Next
Last

Search