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The genetic factors contributing to the risk of cleft lip-cleft palate and their clinical utility

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Abstract

Cleft lip and cleft palate (CL/P) are among the most common congenital malformations in neonates and have syndromic or nonsyndromic forms. Nonsyndromic forms of malformation are being reported to be associated with chromosomal DNA modification by teratogenic exposure and to complex genetic contributions of multiple genes. Syndromic forms are shown to be related to chromosomal aberrations or monogenic diseases. There is a growing body of data illustrating the association of several genes with risk of developing this malformation, including genetic defects in T-box transcription factor-22 (TBX22), interferon regulatory factor-6 (IRF6), and poliovirus receptor-like-1 (PVRL1), responsible for X-linked cleft palate, cleft lip/palate-ectodermal dysplasia syndrome, and Van der Woude and popliteal pterygium syndromes, respectively. Genetic variants in MTR, PCYT1A, ASS1, SLC 25A13, GSTM1, GSTT1, SUMO1 BHMT1, and BHMT2 are being reported to be linked with CL/P risk. The etiology of nonsyndromic CLP is still remained to be unknown, although mutations in candidate genes have been found. Here, we provide an overview about the potential variants to be associated with CL/P for identification of the relative risk of CLP with respect to the basis of genetic background and environmental factors (e.g., dietary factors, alcohol use).

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Funding

This study was supported by a grant awarded to Amir Avan by the Mashhad University of Medical Sciences.

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  1. Saeedeh Askarian and Masoumeh Gholami contributed equally to this paper.

Authors and Affiliations

  1. Department of Medical Biotechnology, School of Paramedical Sciences, Torbat Heydariyeh University of Medical Sciences, Torbat Heydariyeh, Iran

    Saeedeh Askarian

  2. Department of Physiology, School of Paramedical Sciences, Torbat Heydariyeh University of Medical Sciences, Torbat Heydariyeh, Iran

    Saeedeh Askarian

  3. Department of Physiology, Faculty of Medicine, Arak University of Medical Sciences, Arak, Iran

    Masoumeh Gholami

  4. Cancer Research Center, Mashhad University of Medical Sciences, Mashhad, Iran

    Mona Joudi

  5. Metabolic syndrome Research Center, Mashhad University of Medical Sciences, Mashhad, Iran

    Ghazaleh Khalili-Tanha, Negin Chaeichi Tehrani, Majid Khazaei, Seyed Mahdi Hassanian & Amir Avan

  6. Student Research Center, Mashhad University of Medical Sciences, Mashhad, Iran

    Ghazaleh Khalili-Tanha & Majid Khazaei

  7. Division of Medical Education, Brighton & Sussex Medical School, Falmer, Brighton, BN1 9PH, Sussex, UK

    Gordon A. Ferns

  8. Basic Sciences Research Institute, Mashhad University of Medical Sciences, Mashhad, Iran

    Amir Avan

  9. Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran

    Amir Avan

  10. Endoscopic and Minimally Invasive Surgery Research Center, Sarvar Children’s Hospital, Mashhad, Iran

    Marjan Joodi

  11. Department of Pediatric Surgery, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran

    Marjan Joodi

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  1. Saeedeh Askarian
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Contributions

Saeedeh Askarian, Marjan Joodi, Masoumeh Gholami, and Negin Chaeichi Tehrani have gathered study data and written the manuscript. Mona Joudi, Ghazaleh Khalili-Tanha, Majid Khazaei, Seyed Mahdi Hassanian, Gordon A. Ferns, and Amir Avan have provided critical revision of final manuscript. Majid Khazaei, Seyed Mahdi Hassanian, Gordon A. Ferns, and Amir Avan have contributed to the study design and approved the final version of the manuscript.

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Correspondence to Amir Avan or Marjan Joodi.

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Amir Avan hereby declares that he participated in the study and the development of the manuscript titled “The genetic factors contributing to the risk of Cleft lip-cleft palate, and their clinical utility.” He read the final version and gave his consent for the article to be published.

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Askarian, S., Gholami, M., Khalili-Tanha, G. et al. The genetic factors contributing to the risk of cleft lip-cleft palate and their clinical utility. Oral Maxillofac Surg 27, 177–186 (2023). https://doi.org/10.1007/s10006-022-01052-3

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  • Issue Date:

  • DOI: https://doi.org/10.1007/s10006-022-01052-3

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