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

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.

• Authors: Shenela Lakhani, Ryan Doan, Mariam Almureikhi, Jennifer N Partlow, Muna Al Saffar, Mahmoud F Elsaid, Nada Alaaraj, A James Barkovich, Christopher A Walsh, Tawfeg Ben-Omran
• Journal: European journal of medical genetics (Eur J Med Genet) Vol. 60 Issue 5 Pg. 245-249 (May 2017) ISSN: 1878-0849 [Electronic] Netherlands
• PMID: 28254648 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Chemical References

• CNTNAP1 protein, human
• Cell Adhesion Molecules, Neuronal

Topics

• Arthrogryposis (genetics)
• Brain (pathology)
• Cell Adhesion Molecules, Neuronal (genetics)
• Consanguinity
• Female
• Frameshift Mutation
• Humans
• Infant, Newborn
• Male
• Pedigree