Orofacial Cleft and Mandibular Prognathism—Human Genetics and Animal Models
1
Laboratory of Molecular Genetics, Department of Biomedical Sciences, Medical University of Lublin, Chodzki 1, 20-093 Lublin, Poland
2
Center for Molecular and Vascular Biology, Department of Cardiovascular Sciences, University of Leuven, Herestraat 49, 3000 Leuven, Belgium
3
Department of Maxillofacial Surgery, Medical University of Lublin, Staszica 11, 20-081 Lublin, Poland
4
Department of Development and Regeneration, University of Leuven, Herestraat 49, 3000 Leuven, Belgium
*
Author to whom correspondence should be addressed.
Academic Editor: Silvia Russo
Int. J. Mol. Sci. 2022, 23(2), 953; https://doi.org/10.3390/ijms23020953
Received: 10 November 2021
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Revised: 24 December 2021
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Accepted: 13 January 2022
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Published: 16 January 2022
(This article belongs to the Special Issue Which Role for Epigenetics in Neurodevelopmental and Growth Disorders)
Many complex molecular interactions are involved in the process of craniofacial development. Consequently, the network is sensitive to genetic mutations that may result in congenital malformations of varying severity. The most common birth anomalies within the head and neck are orofacial clefts (OFCs) and prognathism. Orofacial clefts are disorders with a range of phenotypes such as the cleft of the lip with or without cleft palate and isolated form of cleft palate with unilateral and bilateral variations. They may occur as an isolated abnormality (nonsyndromic—NSCLP) or coexist with syndromic disorders. Another cause of malformations, prognathism or skeletal class III malocclusion, is characterized by the disproportionate overgrowth of the mandible with or without the hypoplasia of maxilla. Both syndromes may be caused by the presence of environmental factors, but the majority of them are hereditary. Several mutations are linked to those phenotypes. In this review, we summarize the current knowledge regarding the genetics of those phenotypes and describe genotype–phenotype correlations. We then present the animal models used to study these defects.
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Keywords:
cleft lip and palate; prognathism; candidate genes; zebrafish; chicken; mouse
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MDPI and ACS Style
Jaruga, A.; Ksiazkiewicz, J.; Kuzniarz, K.; Tylzanowski, P. Orofacial Cleft and Mandibular Prognathism—Human Genetics and Animal Models. Int. J. Mol. Sci. 2022, 23, 953. https://doi.org/10.3390/ijms23020953
AMA Style
Jaruga A, Ksiazkiewicz J, Kuzniarz K, Tylzanowski P. Orofacial Cleft and Mandibular Prognathism—Human Genetics and Animal Models. International Journal of Molecular Sciences. 2022; 23(2):953. https://doi.org/10.3390/ijms23020953
Chicago/Turabian StyleJaruga, Anna, Jakub Ksiazkiewicz, Krystian Kuzniarz, and Przemko Tylzanowski. 2022. "Orofacial Cleft and Mandibular Prognathism—Human Genetics and Animal Models" International Journal of Molecular Sciences 23, no. 2: 953. https://doi.org/10.3390/ijms23020953
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