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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Main Authors:	Maria Valencia, Lara Tabet, Nadine Yazbeck, Alia Araj, Victor L. Ruiz-Perez, Khalil Charaffedine, Farah Fares, Rebecca Badra, Chantal Farra
Format:	Article
Language:	English
Published:	Hindawi Limited 2015-01-01
Series:	Case Reports in Genetics
Online Access:	http://dx.doi.org/10.1155/2015/528481

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spelling	doaj-e2bfa111bef842338cd1fef004c9fe4e2020-11-25T02:29:37ZengHindawi LimitedCase 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
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Maria Valencia Lara Tabet Nadine Yazbeck Alia Araj Victor L. Ruiz-Perez Khalil Charaffedine Farah Fares Rebecca Badra Chantal Farra
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
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
title	Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families
title_short	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_sort	ellis-van creveld syndrome: mutations uncovered in lebanese families
publisher	Hindawi Limited
series	Case Reports in Genetics
issn	2090-6544 2090-6552
publishDate	2015-01-01
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.
url	http://dx.doi.org/10.1155/2015/528481
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Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families

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