Role of primary cilia and Hedgehog signaling in craniofacial features of Ellis-van Creveld syndrome.
| Autor: | Thomas DC; Center for TMD and Orofacial Pain, Rutgers School of Dental Medicine, Newark, New Jersey, USA., Moorthy JD; GeneAura Pvt. Ltd., Chennai, India., Prabhakar V; M.G.R. Educational and Research Institute, Chennai, India., Ajayakumar A; St Gregorious Dental Center, Adoor, India., Pitchumani PK; The Ohio State University College of Dentistry, Columbus, Ohio, USA. |
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| Jazyk: | angličtina |
| Zdroj: | American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2022 Mar; Vol. 190 (1), pp. 36-46. Date of Electronic Publication: 2022 Apr 08. |
| DOI: | 10.1002/ajmg.c.31969 |
| Abstrakt: | Ellis-van Creveld syndrome (EvC) is an autosomal recessive genetic disorder involving pathogenic variants of EVC and EVC2 genes and classified as a ciliopathy. The syndrome is caused by mutations in the EVC gene on chromosome 4p16, and EVC2 gene, located close to the EVC gene, in a head-to-head configuration. Regardless of the affliction of EVC or EVC2, the clinical features of Ellis-van Creveld syndrome are similar. Both these genes are expressed in tissues such as, but not limited to, the heart, liver, skeletal muscle, and placenta, while the predominant expression in the craniofacial tissues is that of EVC2. Biallelic mutations of EVC and EVC2 affect Hedgehog signaling and thereby ciliary function, crucial factors in vertebrate development, culminating in the phenotypical features characteristic of EvC. The clinical features of Ellis-van Creveld syndrome are consistent with significant abnormalities in morphogenesis and differentiation of the affected tissues. The robust role of primary cilia in histodifferentiation and morphodifferentiation of oral, perioral, and craniofacial tissues is becoming more evident in the most recent literature. In this review, we give a summary of the mechanistic role of primary cilia in craniofacial development, taking Ellis-van Creveld syndrome as a representative example. (© 2022 Wiley Periodicals LLC.) |
| Databáze: | MEDLINE |
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