Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes

Authors

  • S. Shaaban,

    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
    Search for more papers by this author
  • F. Duzcan,

    1. Department of Medical Genetics
    Search for more papers by this author
  • C. Yildirim,

    1. Department of Ophthalmology, Faculty of Medicine, Pamukkale University, Denizli, Turkey
    Search for more papers by this author
  • W.-M. Chan,

    1. Department of Neurology
    2. Program in Genomics
    3. Howard Hughes Medical Institute, Chevy Chase, MD, USA
    Search for more papers by this author
  • C. Andrews,

    1. Department of Neurology
    2. F.B. Kirby Neurobiology Center
    3. Department of Neurology, Harvard Medical School, Boston, MA, USA
    4. Howard Hughes Medical Institute, Chevy Chase, MD, USA
    Search for more papers by this author
  • N.A. Akarsu,

    Corresponding author
    1. Department of Medical Genetics, Faculty of Medicine, Hacettepe University, Ankara, Turkey
    • Corresponding authors: Elizabeth C. Engle, CLS14075, Boston Children's Hospital, 300 Longwood Ave, Boston, MA 02115, USA.

      Tel.: +1 617 919 4030;

      fax: +1 617 919 2769;

      e-mail: elizabeth.engle@childrens.harvard.edu

      and

      Nurten A. Akarsu, Department of Medical Genetics, Faculty of Medicine, Hacettepe University, Ankara 06100, Turkey.

      Tel.: +90 312 305 2559;

      fax: +90 312 426 8592;

      e-mail: nakarsu@hacettepe.edu.tr

    Search for more papers by this author
  • E.C. Engle

    Corresponding author
    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. Howard Hughes Medical Institute, Chevy Chase, MD, USA
    7. Department of Medicine (Genetics)
    8. Department of Ophthalmology, Boston Children's Hospital, Boston, MA, USA
    9. Department of Ophthalmology, Harvard Medical School, Boston, MA, USA
    10. Broad Institute of MIT and Harvard, Cambridge, MA, USA
    • Corresponding authors: Elizabeth C. Engle, CLS14075, Boston Children's Hospital, 300 Longwood Ave, Boston, MA 02115, USA.

      Tel.: +1 617 919 4030;

      fax: +1 617 919 2769;

      e-mail: elizabeth.engle@childrens.harvard.edu

      and

      Nurten A. Akarsu, Department of Medical Genetics, Faculty of Medicine, Hacettepe University, Ankara 06100, Turkey.

      Tel.: +90 312 305 2559;

      fax: +90 312 426 8592;

      e-mail: nakarsu@hacettepe.edu.tr

    Search for more papers by this author

  • The authors declare no conflict of interest.

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.

Ancillary