DNAJC3 mutation in Thai familial type 2 diabetes mellitus

International Journal of Molecular Medicine
Sirikul KulanuwatNattachet Plengvidhya

Abstract

Type 2 diabetes mellitus (T2D) is a heterogeneous disease, with certain cases presenting an autosomal dominant type. The rare coding variants of disease‑causing genes in T2D remain mostly unclear. The present study aimed to identify the disease‑causing gene conducting whole exome sequencing in a Thai T2D family with an autosomal dominant transmission of T2D with no evidence of mutations in known maturity‑onset diabetes of the young (MODY) genes. Candidate variants were selected according to certain criteria of mutation prediction programs, followed by segregation analysis with diabetes in the family. The results demonstrated that, of the 68,817 variants obtained, 122 were considered as candidate variants subsequent to the filtering processes. Genotyping of these variants revealed that DnaJ homolog subfamily C member 3 (DNAJC3) p.H238N segregated with diabetes in the family. This mutation was also identified in another proband from the autosomal dominant T2D family without mutation in known MODY genes and was segregated with diabetes. This variant was also identified in 14/1,000 older‑onset T2D patients [minor allele frequency (MAF)=0.007], 2/500 non‑diabetic controls (MAF=0.002) and 3 prediabetic individuals who were previously...Continue Reading

References

Nov 5, 1997·Nature Genetics·D A StoffersJ F Habener
Dec 11, 1999·Nucleic Acids Research·H M BermanP E Bourne
Sep 29, 2001·The New England Journal of Medicine·S S FajansK S Polonsky
Feb 16, 2002·Methods : a Companion to Methods in Enzymology·K J Livak, T D Schmittgen
Nov 26, 2002·Proceedings of the National Academy of Sciences of the United States of America·Wei YanMichael G Katze
Feb 26, 2003·The Journal of Biological Chemistry·Rika van HuizenNikki J Holbrook
Jan 2, 2004·Nature Medicine·Takao IwawakiMasayuki Miura
Apr 9, 2004·The Journal of Biological Chemistry·Kezhong Zhang, Randal J Kaufman
Oct 2, 2004·Nature Medicine·Changhui MaoAmy S Lee
Sep 25, 2008·Clinical Endocrinology·Nattachet PlengvidhyaPa-thai Yenchitsomanus
Dec 6, 2008·PloS One·Dominik SeelowMarkus Schuelke
May 20, 2009·Bioinformatics·Heng Li, Richard Durbin
Jun 10, 2009·Bioinformatics·Heng LiUNKNOWN 1000 Genome Project Data Processing Subgroup
Oct 9, 2009·Nature·Teri A ManolioPeter M Visscher
Mar 2, 2010·Paediatrics & Child Health·Tracey Bridger
May 19, 2010·Nature Reviews. Genetics·Elizabeth T Cirulli, David B Goldstein
Jul 30, 2011·PloS One·Maria SvärdJodie E Guy
Aug 14, 2012·Nature Genetics·Andrew P MorrisUNKNOWN DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium
Sep 14, 2012·The Review of Diabetic Studies : RDS·Mariana MureaBarry I Freedman
Dec 18, 2012·Journal of Diabetes & Metabolism·Dharambir K Sanghera, Piers R Blackett
Mar 19, 2014·Diabetes Research and Clinical Practice·L GuariguataJ E Shaw
Jul 6, 2014·American Journal of Human Genetics·Seunggeung LeeXihong Lin
Nov 5, 2014·Therapeutic Advances in Chronic Disease·Emma Wilmot, Iskandar Idris
Dec 4, 2014·American Journal of Human Genetics·Matthis SynofzikHolger Prokisch
Nov 5, 2016·Diabetes Research and Clinical Practice·Soo Heon KwakKyong Soo Park

❮ Previous
Next ❯

Citations


❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association
M MotzkauS Klose
© 2022 Meta ULC. All rights reserved