Shaaban S, Duzcan F, Yildirim C, Chan W-M, Andrews C, Akarsu N A, Engle E C
Department of Neurology; F.B. Kirby Neurobiology Center; Program in Genomics; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA; Department of Neurology, Harvard Medical School, Boston, MA, USA; Dubai Harvard Foundation for Medical Research, Boston, MA, USA.
Clin Genet. 2014 Jun;85(6):562-7. doi: 10.1111/cge.12224. Epub 2013 Jul 19.
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.
通过结合纯合性定位和全外显子组测序（WES），我们在一个来自土耳其的近亲家系中鉴定出内皮素转化酶样1（ECEL1）基因中一个新的错义c.1819G>A突变（G607S），该家系表现为先天性弯曲指、脊柱侧凸、膝关节屈曲受限、严重屈光不正和眼肌麻痹综合征。最近有报道称ECEL1突变会导致隐性远端关节挛缩症。本报告扩展了ECEL1相关先天性挛缩综合征的分子基础和表型谱。
