Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy
| Autor: | Christopher A. Walsh, Mariam Almureikhi, A. James Barkovich, Nada Alaaraj, Tawfeg Ben-Omran, Shenela Lakhani, Jennifer N. Partlow, Ryan N. Doan, Muna Al Saffar, Mahmoud F. Elsaid |
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| Rok vydání: | 2017 |
| Předmět: |
Male
musculoskeletal diseases 0301 basic medicine congenital hereditary and neonatal diseases and abnormalities Pathology medicine.medical_specialty Cell Adhesion Molecules Neuronal Consanguinity Article Frameshift mutation 03 medical and health sciences 0302 clinical medicine Genetics medicine Humans Frameshift Mutation Genetics (clinical) Arthrogryposis Cerebral atrophy Arthrogryposis multiplex congenita Muscular hypotonia business.industry Infant Newborn Brain General Medicine medicine.disease Pedigree 030104 developmental biology Female Cerebellar atrophy medicine.symptom Reduced tendon reflexes business 030217 neurology & neurosurgery |
| Zdroj: | European Journal of Medical Genetics. 60:245-249 |
| ISSN: | 1769-7212 |
| DOI: | 10.1016/j.ejmg.2017.02.006 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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