PMID- 31981812
OWN - NLM
STAT- MEDLINE
DCOM- 20210514
LR  - 20221207
IS  - 1532-2777 (Electronic)
IS  - 0306-9877 (Linking)
VI  - 137
DP  - 2020 Apr
TI  - TINAG mutation as a genetic cause of pectus excavatum.
PG  - 109557
LID - S0306-9877(19)31255-1 [pii]
LID - 10.1016/j.mehy.2020.109557 [doi]
AB  - To investigate the possible involvement of germline mutations in pectus excavatum 
      (PE). We investigated a four-generation pedigree with PE. Whole-exome sequencing 
      (WES)was performed to identify potential mutations for PE formation. Sanger 
      sequencing was used to validate these mutations. hFOB1.19 cell proliferation was 
      measured with a Celigo imaging cytometry system. There were four PE patients in 
      this four-generation pedigree. In the four patients, we identified a novel 
      heterozygous stop-gain variant in Tubulointerstitial Nephritis Antigen (TINAG) 
      through exome sequencing: c.G2A, p.W2*. This mutation was validated by Sanger 
      sequencing. Knockdown of TINAG inhibited the proliferation of hFOB1.19 cells. 
      Based on these results, we hypothesize that the TINAG c.G2A mutation is a 
      loss-of-functionmutationthat reduces TINAG expression. Increasing TINAG warrants 
      further investigation as a potential novel anabolic mechanism of PE treatment.
CI  - Copyright (c) 2020 The Authors. Published by Elsevier Ltd.. All rights reserved.
FAU - Tong, Xing
AU  - Tong X
AD  - Department of Pathology, First Affiliated Hospital of Soochow University, Suzhou, 
      Jiangsu 215000, China.
FAU - Li, Guangbin
AU  - Li G
AD  - Department of Thoracic Surgery, First Affiliated Hospital of Soochow University, 
      Suzhou, Jiangsu 215000, China.
FAU - Feng, Yu
AU  - Feng Y
AD  - Department of Thoracic Surgery, First Affiliated Hospital of Soochow University, 
      Suzhou, Jiangsu 215000, China. Electronic address: fengyu1@suda.edu.cn.
LA  - eng
PT  - Journal Article
DEP - 20200108
PL  - United States
TA  - Med Hypotheses
JT  - Medical hypotheses
JID - 7505668
RN  - 0 (Cell Adhesion Molecules)
RN  - 0 (TINAG protein, human)
SB  - IM
MH  - Cell Adhesion Molecules/*genetics
MH  - *Funnel Chest/genetics
MH  - Heterozygote
MH  - Humans
MH  - Mutation
MH  - Pedigree
MH  - Exome Sequencing
OTO - NOTNLM
OT  - Mutation
OT  - Pectus excavatum
OT  - TINAG
OT  - Whole-exome sequencing
EDAT- 2020/01/26 06:00
MHDA- 2021/05/15 06:00
CRDT- 2020/01/26 06:00
PHST- 2019/12/16 00:00 [received]
PHST- 2020/01/05 00:00 [accepted]
PHST- 2020/01/26 06:00 [pubmed]
PHST- 2021/05/15 06:00 [medline]
PHST- 2020/01/26 06:00 [entrez]
AID - S0306-9877(19)31255-1 [pii]
AID - 10.1016/j.mehy.2020.109557 [doi]
PST - ppublish
SO  - Med Hypotheses. 2020 Apr;137:109557. doi: 10.1016/j.mehy.2020.109557. Epub 2020 
      Jan 8.