Three novel mutations in a group of Chinese patients with X-linked Charcot-Marie-Tooth disease.
Clin Neurol Neurosurg
; 184: 105430, 2019 Sep.
Article
em En
| MEDLINE
| ID: mdl-31323543
ABSTRACT
The X-linked form of Charcot-Marie-Tooth disease type1 (CMTX1) is the second most common hereditary motor and sensory neuropathy caused by mutations in the gap junction beta 1 (GJB1) gene. Here, we report the clinical and genetic features of six unrelated Chinese patients with CMTX1, which were identified by genetic analysis. Among the 6 identified mutations, 3 were previously unknown (c.31A > T, c.42 C > G and c.423 del C). The six patients showed typical signs of CMT with a median age of onset of 16.5 years (range 13-30). Sensorineural hearing loss was confirmed in the patient with the c.423 del C mutation. White matter lesions on brain magnetic resonance imaging (MRI) were observed in two patients. The three newly identified GJB1 mutations expand the clinical and mutational spectrum of CMTX1.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Charcot-Marie-Tooth
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Conexinas
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Mutação
Tipo de estudo:
Diagnostic_studies
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Prognostic_studies
Limite:
Adult
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Revista:
Clin Neurol Neurosurg
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
China