Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes

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Shaaban S., Duzcan F., Yildirim C., Chan W. -., Andrews C., Akarsu N. A., ...Daha Fazla

CLINICAL GENETICS, cilt.85, sa.6, ss.562-567, 2014 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 85 Sayı: 6
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1111/cge.12224
  • Dergi Adı: CLINICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.562-567
  • Hacettepe Üniversitesi Adresli: Evet

Özet

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.