A novel <i>VEGFA</i> mutation as a candidate for causing non‐syndromic cleft lip and/or cleft palate

Sun, Bohui; Yu-bao, XI; Huang, Wenbin; Liang, Wei; Zhou, Zhibo; Li, None Weiran; Huang, Huizhe; Jun, Lin; Lee, Hsiang‐Ying; Chen, Feng

doi:10.1111/odi.13719

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“…The application of epidemiology, candidate genes, GWAS and animal models analysis have led to a deeper insight into the etiology of NSCL/P The application of epidemiology, genetic tools and animal model analysis makes reseachers have a better understanding of the cause of NSCL/P [ 13 ]. In our previous WES study in a NSCL/P pedigree, we identified A novel VEGFA mutation (NM_001025366.2 c.773 T > C p.Val258Ala) as a candidate for causing NSCL/P in this case [ 16 ]. According to the three-dimensional structure of the VEGFA protein, this VEGFA variant may disrupt the hydrophobic interaction of VEGFA, thus reducing the stability of VEGFA homodimer and the affinity to its receptors.…”

Section: Discussionmentioning

confidence: 99%

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Functional identification of a rare vascular endothelial growth factor a ( VEGFA ) variant associating with the nonsyndromic cleft lip with/without cleft palate

et al. 2021

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Vascular endothelial growth factor A (VEGFA) is a crucial growth factor, which participates in multiple processes of human growth and development, such as angiogenesis and osteogenesis and is also necessary for development of palate. The purpose of this study was to investigate the effect of a rare VEGFA mutation (NM_001025366.2 773 T > C p.Val258Ala) on the cell functions and osteogenesis. Here, we found that the VEGFA mutation has adverse effects on the function of human embryonic palatal plate mesenchymal (HEPM) cells, and may affect the development of palate. The VEGFA mutation has adverse effects on promoting cell proliferation and migration and inhibiting apoptosis in HEPM and HEK-293 cells. In addition, the mutant VEGFA allele has a negative influence on osteogenesis. Taken together, the rare variant of the VEGFA gene had an adverse effect on cell functions and osteogenesis, which may impact the development of the palate. And these findings suggested that VEGFA mutation (c.773 T > C) may lead to nonsyndromic cleft lip with or without cleft palate and also provide a new insight into the mechanism of VEGFA gene in osteogenesis and palatogenesis.

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Section: Discussionmentioning

confidence: 99%

“…In our previous study, we identified a VEGFA mutation (NM_001025366.2 c.773 T > C p.Val258Ala) as a candidate for causing NSCL/P in a hereditary NSCL/P family [ 16 ]. However, abnormal palatal development and the mechanism of NSCL/P caused by this VEGFA mutation was still unclear.…”

Section: Introductionmentioning

confidence: 99%