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Expanding the phenotypic spectrum of ECEL1 ‐related congenital contracture syndromes
Author(s) -
Shaaban S.,
Duzcan F.,
Yildirim C.,
Chan W.M.,
Andrews C.,
Akarsu N.A.,
Engle E.C.
Publication year - 2014
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12224
Subject(s) - camptodactyly , arthrogryposis , missense mutation , exome sequencing , genetics , phenotype , muscle contracture , medicine , sanger sequencing , contracture , compound heterozygosity , ankylosis , mutation , biology , anatomy , gene , surgery
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.