Journal
EUROPEAN JOURNAL OF MEDICAL GENETICS
Volume 60, Issue 5, Pages 245-249Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2017.02.006
Keywords
Arab; Arthrogryposis multiplex congenita; CNTNAP1; Cerebral atrophy; Qatar
Categories
Funding
- Qatar National Research Fund [NPRP 5-175-3-051]
- NINDS [R01 NS035129]
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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. (C) 2017 Elsevier Masson SAS. All rights reserved.
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