Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families. (30th April 2015)

• Record Type: Journal Article
• Authors: Valencia, Maria; Tabet, Lara; Yazbeck, Nadine; Araj, Alia; Ruiz-Perez, Victor L.; Charaffedine, Khalil; Fares, Farah; Badra, Rebecca; Farra, Chantal
• Other Names: Cotter Philip D. Academic Editor.
• Is Part Of: Case reports in genetics. Volume 2015(2015)
• Publication Date: 2015-04-30
• Subjects: Genetics -- Periodicals; Genetics -- Case studies -- Periodicals; Genetics; Genetic Phenomena; Genetics; Periodicals; Case studies; Periodicals; Case Reports; Fulltext; Internet Resources; Periodicals; 576.5
• DOI: 10.1155/2015/528481
• Languages: English
• ISSNs: 2090-6544

Abstract

Abstract : 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.