Expanding the phenotypic spectrum of ECEL1‐related congenital contracture syndromes |
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| Authors: | S Shaaban F Duzcan C Yildirim W‐M Chan C Andrews NA Akarsu EC Engle |
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| Institution: | 1. Department of Neurology;2. F.B. Kirby Neurobiology Center;3. Program in Genomics;4. Manton Center for Orphan Disease Research, Boston Children's Hospital, , Boston, MA, USA;5. Department of Neurology, Harvard Medical School, , Boston, MA, USA;6. Dubai Harvard Foundation for Medical Research, , Boston, MA, USA;7. Department of Medical Genetics;8. Department of Ophthalmology, Faculty of Medicine, Pamukkale University, , Denizli, Turkey;9. Howard Hughes Medical Institute, , Chevy Chase, MD, USA;10. Department of Medical Genetics, Faculty of Medicine, Hacettepe University, , Ankara, Turkey;11. Department of Medicine (Genetics);12. Department of Ophthalmology, Boston Children's Hospital, , Boston, MA, USA;13. Department of Ophthalmology, Harvard Medical School, , Boston, MA, USA;14. Broad Institute of MIT and Harvard, , Cambridge, MA, USA |
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| Abstract: | Using a combination of homozygosity mapping and whole‐exome sequencing (WES), we identified a novel missense c.1819G>A mutation (G607S) in the endothelin‐converting enzyme‐like 1 (ECEL1) gene in a consanguineous pedigree of Turkish origin presenting with a syndrome of camptodactyly, scoliosis, limited knee flexion, significant refractive errors and ophthalmoplegia. ECEL1 mutations were recently reported to cause recessive forms of distal arthrogryposis. This report expands on the molecular basis and the phenotypic spectrum of ECEL1‐associated congenital contracture syndromes. |
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| Keywords: | arthrogryposis camptodactyly contractures ophthalmoplegia |
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