Major Scope

  •  Colon and Rectal Surgery
  •  General Surgery
  •  Gynecologic Oncology
  •  Plastic Surgery
  •  Neurological Surgery
  •  Orthopaedic Surgery
  •  Orthopaedic Surgery of the Spine
  •  Neonatal Surgery
  •  Prenatal Surgery
  •  Trauma Surgery
  •  Surgical Intensivists, Specializing In Critical Care Patients
  •  Thoracic Surgery
  •  Congenital Cardiac Surgery
  •  Thoracic Surgery-Integrated
  •  Vascular Surgery

Abstract

Citation: Clin Surg. 2022;7(1):3415.Research Article | Open Access

Identification of FGFR1 Mutations in Patients with Sporadic Conotruncal Defect

Wenting Song1,2#, Shuang Zhou2#, Jieru Lu1,2, Yu Wang1,2, Qingjie Wang2, Jian Wang2, Zhuo Meng2, Jiayu Peng2, Yue Zhou2, Sun Chen2, Yurong Wu2* and Kun Sun1,2*

1Department of Pediatric Cardiology, Wenzhou Medical University, Second Affiliated Hospital, China
2Department of Pediatric Cardiovascular, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, China
#These authors contributed equally to this work

*Correspondance to: Yurong Wu 

 PDF  Full Text DOI: 10.25107/2474-1647.3415

Abstract

Background: Conotruncal Defects (CTDs), caused by dysplasia of the Outflow Tract (OFT), are heterogeneous congenital heart malformations. Recent research has shown that Fibroblast Growth Factor 1 (FGFR1) is closely related to Endothelial-to-Mesenchymal Transition (EMT), which implies that dysfunctional FGFR1 can result in OFT malformation. Methods: FGFR1 variants were sequenced by targeted sequencing in a cohort of 604 CHD patients and population-matched healthy controls (n=300). To investigate the effect of mutations on the experience of the FGFR1 protein, as well as the influence of EMT related proteins in HUVECs. We also identified expression of FGFR1 in Carnegie stage 16 human embryos. Results: Three rare heterozygous non-synonymous variants were identified in six CTD patients: The variant NM_001174063: c.173G>A (p.R58Q), referred to as rs200116660; the variant NM_001174063: c.320C>T (p.S107L) referred to as rs140382957; and the variant NM_001174063: c1271 G>A (p.R333H), referred to as rs183376882. There was a difference in expression of the variants. The expression levels of EMT related genes in the variants were altered. And we found that FGFR1 was detected in the Outflow Tract (OFT) during human embryonic development. Conclusion: Our results demonstrate that the p.R58Q, p.S107L and p.R333H variants of FGFR1 contribute to CTD etiology by excessive suppression of EMT.

Keywords

Cite the article

Song W, Zhou S, Lu J, Wang Y, Wang Q, Wang J, et al. Identification of FGFR1 Mutations in Patients with Sporadic Conotruncal Defect. Clin Surg. 2022; 7: 3415.

Journal Basic Info

  • Impact Factor: 2.395**
  • H-Index: 8
  • ISSN: 2474-1647
  • DOI: 10.25107/2474-1647
  • NLM ID: 101702548

Search Our Journal

Journal Indexed In

Articles in PubMed

Sildenafil Transiently Delays Early Alveolar Bone Healing of Tooth Extraction Sockets
 PubMed  PMC  PDF  Full Text
Monitoring an Ongoing Enhanced Recovery after Surgery (ERAS) Program: Adherence Improves Clinical Outcomes in a Comparison of Three Thousand Colorectal Cases
 PubMed  PMC  PDF  Full Text
View More...

Articles with Grants

Systematical Analysis of Circular RNAs in Triple Negative Breast Cancer
 Abstract  PDF  Full Text
Healthy Years of Life Lost in Shaanxi Province, Western China: An Evidence from the 2018 National Health Service Survey
 Abstract  PDF  Full Text
View More...