Dejerine-Sottas' neuropathy caused by the missense mutation PMP22 Ser72Leu.
Acta Neurol Scand
; 110(3): 196-9, 2004 Sep.
Article
em En
| MEDLINE
| ID: mdl-15285778
ABSTRACT
OBJECTIVE:
To describe a patient with the Dejerine-Sottas' syndrome due to a de novo Ser72Leu amino acid substitution in the PMP22 protein and summarize the phenotype associated with this frequent mutation. CASE REPORT The proband has a medical history of early onset, severe, and progressive demyelinating neuropathy, accompanied by mild ptosis and limitations of eye movements. Ulnar nerve motor conduction velocities were extremely reduced (2.6 and 2.2 m/s), and the sural nerve biopsy showed onion bulbs and thinly myelinated axons. Duplication of chromosome 17p11.2 was ruled out, and the Ser72Leu substitution was found upon sequencing the PMP22 gene.CONCLUSION:
The Ser72Leu substitution is being confirmed as the most frequent point mutation in the PMP22 gene. This 'hot spot' should be considered in the strategy of looking for point mutations in the hereditary demyelinating neuropathies.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Nervos Periféricos
/
Axônios
/
Neuropatia Hereditária Motora e Sensorial
/
Proteínas da Mielina
/
Bainha de Mielina
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
/
Female
/
Humans
Idioma:
En
Revista:
Acta Neurol Scand
Ano de publicação:
2004
Tipo de documento:
Article