Molecular and Cellular Pathogenesis of Ellis-van Creveld Syndrome: Lessons from Targeted and Natural Mutations in Animal Models
Ellis-van Creveld syndrome (EVC; MIM ID #225500) is a rare congenital disease with an occurrence of 1 in 60,000. It is characterized by remarkable skeletal dysplasia, such as short limbs, ribs and polydactyly, and orofacial anomalies. With two of three patients first noted as being offspring of cons...
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| Format: | Article |
| Language: | English |
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MDPI AG
2020-10-01
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| Series: | Journal of Developmental Biology |
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| Online Access: | https://www.mdpi.com/2221-3759/8/4/25 |
| _version_ | 1797551515820359680 |
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| author | Ke’ale W. Louie Yuji Mishina Honghao Zhang |
| author_facet | Ke’ale W. Louie Yuji Mishina Honghao Zhang |
| author_sort | Ke’ale W. Louie |
| collection | DOAJ |
| description | Ellis-van Creveld syndrome (EVC; MIM ID #225500) is a rare congenital disease with an occurrence of 1 in 60,000. It is characterized by remarkable skeletal dysplasia, such as short limbs, ribs and polydactyly, and orofacial anomalies. With two of three patients first noted as being offspring of consanguineous marriage, this autosomal recessive disease results from mutations in one of two causative genes: <i>EVC</i> or <i>EVC2/LIMBIN</i>. The recent identification and manipulation of genetic homologs in animals has deepened our understanding beyond human case studies and provided critical insight into disease pathogenesis. This review highlights the utility of animal-based studies of EVC by summarizing: (1) molecular biology of EVC and EVC2/LIMBIN, (2) human disease signs, (3) dysplastic limb development, (4) craniofacial anomalies, (5) tooth anomalies, (6) tracheal cartilage abnormalities, and (7) EVC-like disorders in non-human species. |
| first_indexed | 2024-03-10T15:46:09Z |
| format | Article |
| id | doaj.art-d5718dcecc834b32aa417c6439b42887 |
| institution | Directory Open Access Journal |
| issn | 2221-3759 |
| language | English |
| last_indexed | 2024-03-10T15:46:09Z |
| publishDate | 2020-10-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Developmental Biology |
| spelling | doaj.art-d5718dcecc834b32aa417c6439b428872023-11-20T16:26:16ZengMDPI AGJournal of Developmental Biology2221-37592020-10-01842510.3390/jdb8040025Molecular and Cellular Pathogenesis of Ellis-van Creveld Syndrome: Lessons from Targeted and Natural Mutations in Animal ModelsKe’ale W. Louie0Yuji Mishina1Honghao Zhang2Department of Biologic and Materials Sciences & Prosthodontics, School of Dentistry, University of Michigan, Ann Arbor, MI 48109-1078, USADepartment of Biologic and Materials Sciences & Prosthodontics, School of Dentistry, University of Michigan, Ann Arbor, MI 48109-1078, USADepartment of Biologic and Materials Sciences & Prosthodontics, School of Dentistry, University of Michigan, Ann Arbor, MI 48109-1078, USAEllis-van Creveld syndrome (EVC; MIM ID #225500) is a rare congenital disease with an occurrence of 1 in 60,000. It is characterized by remarkable skeletal dysplasia, such as short limbs, ribs and polydactyly, and orofacial anomalies. With two of three patients first noted as being offspring of consanguineous marriage, this autosomal recessive disease results from mutations in one of two causative genes: <i>EVC</i> or <i>EVC2/LIMBIN</i>. The recent identification and manipulation of genetic homologs in animals has deepened our understanding beyond human case studies and provided critical insight into disease pathogenesis. This review highlights the utility of animal-based studies of EVC by summarizing: (1) molecular biology of EVC and EVC2/LIMBIN, (2) human disease signs, (3) dysplastic limb development, (4) craniofacial anomalies, (5) tooth anomalies, (6) tracheal cartilage abnormalities, and (7) EVC-like disorders in non-human species.https://www.mdpi.com/2221-3759/8/4/25Ellis-van Creveld syndromeEVC2craniofacialLIMBINciliopathy |
| spellingShingle | Ke’ale W. Louie Yuji Mishina Honghao Zhang Molecular and Cellular Pathogenesis of Ellis-van Creveld Syndrome: Lessons from Targeted and Natural Mutations in Animal Models Journal of Developmental Biology Ellis-van Creveld syndrome EVC2 craniofacial LIMBIN ciliopathy |
| title | Molecular and Cellular Pathogenesis of Ellis-van Creveld Syndrome: Lessons from Targeted and Natural Mutations in Animal Models |
| title_full | Molecular and Cellular Pathogenesis of Ellis-van Creveld Syndrome: Lessons from Targeted and Natural Mutations in Animal Models |
| title_fullStr | Molecular and Cellular Pathogenesis of Ellis-van Creveld Syndrome: Lessons from Targeted and Natural Mutations in Animal Models |
| title_full_unstemmed | Molecular and Cellular Pathogenesis of Ellis-van Creveld Syndrome: Lessons from Targeted and Natural Mutations in Animal Models |
| title_short | Molecular and Cellular Pathogenesis of Ellis-van Creveld Syndrome: Lessons from Targeted and Natural Mutations in Animal Models |
| title_sort | molecular and cellular pathogenesis of ellis van creveld syndrome lessons from targeted and natural mutations in animal models |
| topic | Ellis-van Creveld syndrome EVC2 craniofacial LIMBIN ciliopathy |
| url | https://www.mdpi.com/2221-3759/8/4/25 |
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