PMID- 37246056
OWN - NLM
STAT- MEDLINE
DCOM- 20230728
LR  - 20230906
IS  - 2212-4411 (Electronic)
VI  - 136
IP  - 2
DP  - 2023 Aug
TI  - TGFB3 gene mutation associated with mandibular coronoid process hyperplasia: a 
      family investigation.
PG  - e109-e115
LID - S2212-4403(23)00429-7 [pii]
LID - 10.1016/j.oooo.2023.04.004 [doi]
AB  - OBJECTIVE: Coronoid process hyperplasia (CPH) of the mandible can lead to 
      restricted mouth opening and maxillofacial deformities, which have been 
      hypothesized to be closely associated with genetics. This study investigated the 
      relationship between congenital CPH and TGFB3 mutation in a family of patients 
      with CPH. STUDY DESIGN: A limited mouth opening proband with CPH underwent 
      whole-exome gene sequencing in November 2019, and the results confirmed compound 
      heterozygous mutations in the TGFB3 gene. Subsequently, clinical imaging and 
      genetic testing were performed on 10 other individuals in his family. RESULTS: A 
      total of 9 people in this family have CPH. Among them, 6 have the same exon 
      compound heterozygous mutation sites of the TGFB3 gene (chr14-76446905 and 
      chr14-76429713), accompanied by homozygous or heterozygous mutations in the 
      3'untranslated region (3'UTR) of the TGFB3 gene (chr14:76429555). The other 3 
      individuals have a homozygous mutation in the 3'untranslated region of the TGFB3 
      gene. CONCLUSION: The heterogeneous compound mutation of the TGFB3 gene or the 
      homozygous mutation of 3'UTR of the TGFB3 gene may be correlated with CPH. In 
      addition, the specifically related mechanism needs to be confirmed by further 
      genetic animal experiments.
CI  - Copyright (c) 2023 Elsevier Inc. All rights reserved.
FAU - Shiying, Shen
AU  - Shiying S
AD  - Department of Oral and Maxillofacial Surgery, Affiliated Stomatology Hospital, 
      Kunming Medical University, Kunming, Yunnan 650106, China.
FAU - Weihong, Wang
AU  - Weihong W
AD  - Department of Oral and Maxillofacial Surgery, Affiliated Stomatology Hospital, 
      Kunming Medical University, Kunming, Yunnan 650106, China. Electronic address: 
      Wangweihong@kmmu.edu.cn.
FAU - Xiuqiong, Tang
AU  - Xiuqiong T
AD  - Department of Stomatology, Luoping County People's Hospital, Qujing, Yunnan 
      655800, China.
FAU - Yemei, Qian
AU  - Yemei Q
AD  - Department of Oral and Maxillofacial Surgery, Affiliated Stomatology Hospital, 
      Kunming Medical University, Kunming, Yunnan 650106, China.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20230408
PL  - United States
TA  - Oral Surg Oral Med Oral Pathol Oral Radiol
JT  - Oral surgery, oral medicine, oral pathology and oral radiology
JID - 101576782
RN  - 0 (Transforming Growth Factor beta3)
RN  - 0 (3' Untranslated Regions)
RN  - 0 (TGFB3 protein, human)
SB  - IM
MH  - Humans
MH  - *Transforming Growth Factor beta3/genetics
MH  - Hyperplasia/genetics/pathology
MH  - 3' Untranslated Regions
MH  - Mutation/genetics
MH  - *Mandible/pathology
EDAT- 2023/05/29 00:42
MHDA- 2023/07/28 06:43
CRDT- 2023/05/28 21:59
PHST- 2022/03/26 00:00 [received]
PHST- 2023/03/29 00:00 [revised]
PHST- 2023/04/02 00:00 [accepted]
PHST- 2023/07/28 06:43 [medline]
PHST- 2023/05/29 00:42 [pubmed]
PHST- 2023/05/28 21:59 [entrez]
AID - S2212-4403(23)00429-7 [pii]
AID - 10.1016/j.oooo.2023.04.004 [doi]
PST - ppublish
SO  - Oral Surg Oral Med Oral Pathol Oral Radiol. 2023 Aug;136(2):e109-e115. doi: 
      10.1016/j.oooo.2023.04.004. Epub 2023 Apr 8.