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Review
. 2020 Oct 20:8:592271.
doi: 10.3389/fcell.2020.592271. eCollection 2020.

Non-syndromic Cleft Palate: An Overview on Human Genetic and Environmental Risk Factors

Marcella Martinelli  1 , Annalisa Palmieri  1 , Francesco Carinci  2 , Luca Scapoli  1
Affiliations
Review

Non-syndromic Cleft Palate: An Overview on Human Genetic and Environmental Risk Factors

Marcella Martinelli et al. Front Cell Dev Biol. .

Abstract

The epithelial and mesenchymal cells involved in early embryonic facial development are guided by complex regulatory mechanisms. Any factor perturbing the growth, approach and fusion of the frontonasal and maxillary processes could result in orofacial clefts that represent the most common craniofacial malformations in humans. The rarest and, probably for this reason, the least studied form of cleft involves only the secondary palate, which is posterior to the incisive foramen. The etiology of cleft palate only is multifactorial and involves both genetic and environmental risk factors. The intention of this review is to give the reader an overview of the efforts made by researchers to shed light on the underlying causes of this birth defect. Most of the scientific papers suggesting potential environmental and genetic causes of non-syndromic cleft palate are summarized in this review, including genome-wide association and gene-environment interaction studies.

Keywords: FOXE1; GRHL3; NSCPO; PAX7; etiology; non-syndromic cleft palate; risk factors.

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Figures

FIGURE 1
FIGURE 1
Subtypes of cleft palate only. Each sketch illustrates the alveolar process and the palatal rim. (A) Normal palate. (B) Cleft of the hard palate. (C) Cleft of the soft palate. (D) Cleft of the hard and soft palate. (E) Cleft uvula. (F) Submucous cleft palate.
See this image and copyright information in PMC

References

    1. Ackermans M. M., Zhou H., Carels C. E., Wagener F. A., Von den Hoff J. W. (2011). Vitamin A and clefting: putative biological mechanisms. Nutr. Rev. 69(10), 613–624. 10.1111/j.1753-4887.2011.00425.x - DOI - PubMed
    1. Acs L., Banyai D., Nemes B., Nagy K., Acs N., Banhidy F., et al. (2020). Maternal-related factors in the origin of isolated cleft palate-A population-based case-control study. Orthod. Craniofac. Res. 23(2), 174–180. 10.1111/ocr.12361 - DOI - PubMed
    1. Acs N., Banhidy F., Puho E. H., Czeizel A. E. (2006). Acute respiratory infections during pregnancy and congenital abnormalities: a population-based case-control study. Cong. Anom 46(2), 86–96. 10.1111/j.1741-4520.2006.00108.x - DOI - PubMed
    1. Andreou A. M., Pauws E., Jones M. C., Singh M. K., Bussen M., Doudney K., et al. (2007). TBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation, and transcriptional repression. Am. J. Hum. Genet 81(4), 700–712. 10.1086/521033 - DOI - PMC - PubMed
    1. Bailey L. B., Stover P. J., McNulty H., Fenech M. F., Gregory J. F., 3rd, Mills J. L., et al. (2015). Biomarkers of Nutrition for Development-Folate Review. J. Nutr. 145(7), 1636S–1680S. 10.3945/jn.114.206599 - DOI - PMC - PubMed

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