Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families
Background. Ellis-van Creveld (EvC) syndrome is a rare, autosomal recessive disorder characterized by short stature, short limbs, growth retardation, polydactyly, and ectodermal defects with cardiac anomalies occurring in around 60% of cases. EVC syndrome has been linked to mutations in EVC and EVC2...
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| Format: | Article |
| Language: | English |
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Wiley
2015-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2015/528481 |
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| author | Maria Valencia Lara Tabet Nadine Yazbeck Alia Araj Victor L. Ruiz-Perez Khalil Charaffedine Farah Fares Rebecca Badra Chantal Farra |
| author_facet | Maria Valencia Lara Tabet Nadine Yazbeck Alia Araj Victor L. Ruiz-Perez Khalil Charaffedine Farah Fares Rebecca Badra Chantal Farra |
| author_sort | Maria Valencia |
| collection | DOAJ |
| description | Background. Ellis-van Creveld (EvC) syndrome is a rare, autosomal recessive disorder characterized by short stature, short limbs, growth retardation, polydactyly, and ectodermal defects with cardiac anomalies occurring in around 60% of cases. EVC syndrome has been linked to mutations in EVC and EVC2 genes. Case Presentation. We report EvC syndrome in two unrelated Lebanese families both having homozygous mutations in the EVC2 gene, c.2653C>T (p.(Arg885*)) and c.2012_2015del (p.(Leu671*)) in exons 15 and 13, respectively, with the latter being reported for the first time. Conclusion. Although EvC has been largely described in the medical literature, clinical features of this syndrome vary. While more research is required to explore other genes involved in EvC, early diagnosis and therapeutic care are important to achieve a better quality of life. |
| format | Article |
| id | doaj-art-e2bfa111bef842338cd1fef004c9fe4e |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2015-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-e2bfa111bef842338cd1fef004c9fe4e2025-02-03T06:00:45ZengWileyCase Reports in Genetics2090-65442090-65522015-01-01201510.1155/2015/528481528481Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese FamiliesMaria Valencia0Lara Tabet1Nadine Yazbeck2Alia Araj3Victor L. Ruiz-Perez4Khalil Charaffedine5Farah Fares6Rebecca Badra7Chantal Farra8Instituto de Investigaciones Biomédicas, Consejo Superior de Científicas, Universidad Autónoma de Madrid, Madrid, SpainDepartment of Pathology and Laboratory Medicine, American University of Beirut Medical Center, P.O. Box 11-0236 Riad El Solh, Beirut 1107 2020, LebanonDepartment of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, P.O. Box 11-0236 Riad El Solh, Beirut 1107 2020, LebanonDepartment of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, P.O. Box 11-0236 Riad El Solh, Beirut 1107 2020, LebanonInstituto de Investigaciones Biomédicas, Consejo Superior de Científicas, Universidad Autónoma de Madrid, Madrid, SpainDepartment of Pathology and Laboratory Medicine, American University of Beirut Medical Center, P.O. Box 11-0236 Riad El Solh, Beirut 1107 2020, LebanonDepartment of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, P.O. Box 11-0236 Riad El Solh, Beirut 1107 2020, LebanonDepartment of Pathology and Laboratory Medicine, American University of Beirut Medical Center, P.O. Box 11-0236 Riad El Solh, Beirut 1107 2020, LebanonDepartment of Pathology and Laboratory Medicine, American University of Beirut Medical Center, P.O. Box 11-0236 Riad El Solh, Beirut 1107 2020, LebanonBackground. Ellis-van Creveld (EvC) syndrome is a rare, autosomal recessive disorder characterized by short stature, short limbs, growth retardation, polydactyly, and ectodermal defects with cardiac anomalies occurring in around 60% of cases. EVC syndrome has been linked to mutations in EVC and EVC2 genes. Case Presentation. We report EvC syndrome in two unrelated Lebanese families both having homozygous mutations in the EVC2 gene, c.2653C>T (p.(Arg885*)) and c.2012_2015del (p.(Leu671*)) in exons 15 and 13, respectively, with the latter being reported for the first time. Conclusion. Although EvC has been largely described in the medical literature, clinical features of this syndrome vary. While more research is required to explore other genes involved in EvC, early diagnosis and therapeutic care are important to achieve a better quality of life.http://dx.doi.org/10.1155/2015/528481 |
| spellingShingle | Maria Valencia Lara Tabet Nadine Yazbeck Alia Araj Victor L. Ruiz-Perez Khalil Charaffedine Farah Fares Rebecca Badra Chantal Farra Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families Case Reports in Genetics |
| title | Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families |
| title_full | Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families |
| title_fullStr | Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families |
| title_full_unstemmed | Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families |
| title_short | Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families |
| title_sort | ellis van creveld syndrome mutations uncovered in lebanese families |
| url | http://dx.doi.org/10.1155/2015/528481 |
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