Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
Muscle Nerve
; 55(5): 761-765, 2017 05.
Article
em En
| MEDLINE
| ID: mdl-27668699
ABSTRACT
INTRODUCTION:
Congenital hypomyelinating neuropathy (CHN) is a rare congenital neuropathy that presents in the neonatal period and has been linked previously to mutations in several genes associated with myelination. A recent study has linked 4 homozygous frameshift mutations in the contactin-associated protein 1 (CNTNAP1) gene with this condition.METHODS:
We report a neonate with CHN who was found to have absent sensory nerve and compound muscle action potentials and hypomyelination on nerve biopsy.RESULTS:
On whole exome sequencing, we identified a novel CNTNAP1 homozygous missense mutation (p.Arg388Pro) in the proband, and both parents were carriers. Molecular modeling suggests that this variant disrupts a ß-strand to cause an unstable structure and likely significant changes in protein function.CONCLUSIONS:
This report links a missense CNTNAP1 variant to the disease phenotype previously associated only with frameshift mutations. Muscle Nerve 55 761-765, 2017.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Charcot-Marie-Tooth
/
Moléculas de Adesão Celular Neuronais
/
Mutação de Sentido Incorreto
Tipo de estudo:
Prognostic_studies
Limite:
Humans
/
Male
/
Newborn
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article