Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families
| Autor: | Farah Fares, María Valencia, Alia Araj, Nadine Yazbeck, Victor L. Ruiz-Perez, Chantal Farra, Lara Tabet, Khalil Charaffedine, Rebecca Badra |
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| Rok vydání: | 2015 |
| Předmět: | |
| Zdroj: | Case Reports in Genetics Case Reports in Genetics, Vol 2015 (2015) |
| ISSN: | 2090-6552 2090-6544 |
| DOI: | 10.1155/2015/528481 |
| Popis: | 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 inEVCandEVC2genes.Case Presentation. We report EvC syndrome in two unrelated Lebanese families both having homozygous mutations in theEVC2gene, 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. |
| Databáze: | OpenAIRE |
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