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Eur J Med Genet. 2017 May;60(5):245-249. doi: 10.1016/j.ejmg.2017.02.006. Epub 2017 Feb 27.

Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy.

Author information

1
Section of Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Qatar.
2
Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA, 02115, USA.
3
Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA, 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, 02115, USA; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, 02115, USA.
4
Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA, 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, 02115, USA; Department of Pediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.
5
Section of Neurology, Department of Pediatrics, Hamad Medical Corporation, Qatar.
6
Section of Children Development and Rehabilitation, Department of Pediatrics, Hamad Medical Corporation, Qatar.
7
Pediatric Neuroradiology, Department of Neuroradiology, University of California, San Francisco, San Francisco, CA, 94143, USA.
8
Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA, 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, 02115, USA; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, 02115, USA; Harvard Medical School, Boston, MA, 02115, USA.
9
Section of Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Qatar. Electronic address: tawben11@hotmail.com.

Abstract

Arthrogryposis multiplex congenital, the occurrence of multiple joint contractures at birth, can in some cases be accompanied by insufficient myelination of peripheral nerves, muscular hypotonia, reduced tendon reflexes, and respiratory insufficiency. Recently mutations in the CASPR/CNTN1 complex have been associated with similar severe phenotypes and CNTNAP1 gene mutations, causing loss of the CASPR protein, were shown to cause severe, prenatal onset arthrogryposis multiplex congenita in four unrelated families. Here we report a consanguineous Arab family from Qatar with three children having an early lethal form of arthrogryposis multiplex congenita and a novel frameshift mutation in CNTNAP1. We further expand the existing CNTNAP1-associated phenotype to include profound cerebral and cerebellar atrophy.

KEYWORDS:

Arab; Arthrogryposis multiplex congenita; CNTNAP1; Cerebral atrophy; Qatar

PMID:
28254648
PMCID:
PMC5569911
DOI:
10.1016/j.ejmg.2017.02.006
[Indexed for MEDLINE]
Free PMC Article

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