PMID- 34815695
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220428
IS  - 1178-7074 (Print)
IS  - 1178-7074 (Electronic)
IS  - 1178-7074 (Linking)
VI  - 14
DP  - 2021
TI  - Whole Exome Sequencing Study in a Family with Type 2 Diabetes Mellitus.
PG  - 8217-8229
LID - 10.2147/IJGM.S335090 [doi]
AB  - BACKGROUND: Type 2 diabetes mellitus (T2DM) is characterized by beta cell decline in 
      the pancreas and insulin resistance. This study aimed to investigate the possible 
      pathogenic gene mutation sites of T2DM patients using whole exome sequencing. 
      MATERIALS AND METHODS: We recruited a Chinese family with 3-generation history of 
      diabetes. The whole blood genomic DNA of seven members of the family was 
      extracted and sent for whole exome sequencing. Biological information was 
      analyzed with in silico prediction methods, including significance analysis of 
      single nucleotide polymorphism (SNP)/Indel site, and analysis of specific 
      SNP/Indel proteins and their potential mechanisms. RESULTS: Six out of seven 
      members of the family were diagnosed with diabetes. All DNA samples (23 kb) met 
      quality requirements of library construction. Clean reads of each sample 
      demonstrated high Q20 and Q30 (>80%), indicating good sequencing quality of 
      sequencing data. A total of 130,693 SNPs and 15,928 Indels were found in DNA 
      samples. A total of 22 significant SNPs and Indel mutation sites located on 19 
      genes were obtained, including ZCCHC3, SYN2, RPL14, SRRD, AMD1, CAMKK2, ZNF787, 
      RNF157, NPIPB15, ALG3, KIAA0040, MAST2, ESRRA, C8orf58, PNLIPRP1, DACH1, MACC1, 
      CAPN9 and DMKN. An rs2305205 mutation of PNLIPRP1 gene and an rs778701848 
      mutation of CAMKK2 gene may be associated with the pathogenesis of T2DM in this 
      family. CONCLUSION: Exons of these diabetic patients demonstrated an rs2305205 
      mutation in PNLIPRP1 gene and an rs778701848 mutation in CAMKK2 gene. These two 
      mutations might promote T2DM occurrence through reducing sensitivity of 
      peripheral tissue to insulin and reducing insulin secretion.
CI  - (c) 2021 Zhou et al.
FAU - Zhou, Xiaowei
AU  - Zhou X
AD  - Department of Diabetes, The First Affiliated Hospital of Kunming Medical 
      University, Kunming, People's Republic of China.
FAU - Guo, Weichang
AU  - Guo W
AD  - Department of Physical Education, Kunming Medical University, Kunming, People's 
      Republic of China.
FAU - Yin, Hejia
AU  - Yin H
AD  - Department of Diabetes, The First Affiliated Hospital of Kunming Medical 
      University, Kunming, People's Republic of China.
FAU - Chen, Jie
AU  - Chen J
AUID- ORCID: 0000-0002-3378-7415
AD  - Department of Diabetes, The First Affiliated Hospital of Kunming Medical 
      University, Kunming, People's Republic of China.
FAU - Ma, Liju
AU  - Ma L
AD  - Department of Clinical Laboratory, First Affiliated Hospital of Kunming Medical 
      University, Kunming, People's Republic of China.
FAU - Yang, Qiuping
AU  - Yang Q
AD  - Department of Geriatrics, The First Affiliated Hospital of Kunming Medical 
      University, Kunming, People's Republic of China.
FAU - Zhao, Yan
AU  - Zhao Y
AD  - Department of Diabetes, The First Affiliated Hospital of Kunming Medical 
      University, Kunming, People's Republic of China.
FAU - Li, Shaoyou
AU  - Li S
AUID- ORCID: 0000-0001-9318-5910
AD  - Department of NHC Key Laboratory of Drug Addiction Medicine, The First Affiliated 
      Hospital of Kunming Medical University, Kunming, People's Republic of China.
FAU - Liu, Weijun
AU  - Liu W
AD  - Department of Diabetes, The First Affiliated Hospital of Kunming Medical 
      University, Kunming, People's Republic of China.
FAU - Li, Huifang
AU  - Li H
AD  - Department of Diabetes, The First Affiliated Hospital of Kunming Medical 
      University, Kunming, People's Republic of China.
LA  - eng
PT  - Journal Article
DEP - 20211116
PL  - New Zealand
TA  - Int J Gen Med
JT  - International journal of general medicine
JID - 101515487
PMC - PMC8605871
OTO - NOTNLM
OT  - CAMKK2
OT  - PNLIPRP1
OT  - gene mutation
OT  - type 2 diabetes
OT  - whole exome sequencing
COIS- The authors report no conflicts of interest in this work.
EDAT- 2021/11/25 06:00
MHDA- 2021/11/25 06:01
PMCR- 2021/11/16
CRDT- 2021/11/24 06:32
PHST- 2021/08/19 00:00 [received]
PHST- 2021/10/01 00:00 [accepted]
PHST- 2021/11/24 06:32 [entrez]
PHST- 2021/11/25 06:00 [pubmed]
PHST- 2021/11/25 06:01 [medline]
PHST- 2021/11/16 00:00 [pmc-release]
AID - 335090 [pii]
AID - 10.2147/IJGM.S335090 [doi]
PST - epublish
SO  - Int J Gen Med. 2021 Nov 16;14:8217-8229. doi: 10.2147/IJGM.S335090. eCollection 
      2021.