Four novel connexin 32 mutations in X-linked Charcot–Marie–Tooth disease. Phenotypic variability and central nervous system involvement
| Autor: | Karolina-Maria Karletidi, Georgia Karadima, Georgios Koutsis, Maria Raftopoulou, Marios Panas, Paraskewi Floroskufi |
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| Rok vydání: | 2014 |
| Předmět: |
Adult
Central Nervous System Adolescent Central nervous system Disease Biology medicine.disease_cause Connexins Tooth disease Charcot-Marie-Tooth Disease medicine Humans education Gene Family Health Genetics Mutation education.field_of_study Genetic heterogeneity Middle Aged Magnetic Resonance Imaging Phenotype medicine.anatomical_structure Neurology Connexin 32 Female Neurology (clinical) |
| Zdroj: | Journal of the Neurological Sciences. 341:158-161 |
| ISSN: | 0022-510X |
| DOI: | 10.1016/j.jns.2014.04.007 |
| Popis: | Charcot-Marie-Tooth (CMT) disease, the most common hereditary neuropathy, is clinically and genetically heterogeneous. X-linked CMT (CMTX) is usually caused by mutations in the gap junction protein b 1 gene (GJB1) coding for connexin 32 (Cx32). The clinical manifestations of CMTX are characterized by significant variability, with some patients exhibiting central nervous system (CNS) involvement. We report four novel mutations in GJB1, c.191G>A (p.Cys64Tyr), c.508G>T (p.Val170Phe), c.778A>G (p.Lys260Glu) and c.300C>G (p.His100Gln) identified in four unrelated Greek families. These mutations were characterized by variable phenotypic expression, including a family with the Roussy-Levy syndrome, and three of them were associated with mild clinical CNS manifestations. |
| Databáze: | OpenAIRE |
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