Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes.
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ABSTRACT:
SUBMITTER: Shaaban S
PROVIDER: S-EPMC3883930 | biostudies-literature | 2014 Jun
REPOSITORIES: biostudies-literature
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Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes.
Shaaban S S Duzcan F F Yildirim C C Chan W-M WM Andrews C C Akarsu N A NA Engle E C EC
Clinical genetics 20130719 6
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 ...[more]
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