Parental mosaicism of a novel PMP22 mutation with a minimal neuropathic phenotype.
J Peripher Nerv Syst
; 17(4): 414-7, 2012 Dec.
Article
em En
| MEDLINE
| ID: mdl-23279344
ABSTRACT
Genetic germinal and somatic mosaicisms of dominant Charcot-Marie-Tooth disease (CMT) mutations are rarely reported and/or recognized. We describe a novel heterozygous p.Trp39Cys missense mutation in the extracellular domain of the peripheral myelin protein 22 (PMP22) associated with an early-onset demyelinating CMT type 1 E (CMT1E) in two siblings born from asymptomatic non-consanguineous parents. The 29-year-old mother, harboring approximately 20% of the mutant PMP22 allele in blood, had minor signs of distal polyneuropathy (pes cavus, decreased ankle jerk reflexes and vibration sense in legs) and slight reduction of sural nerve action potentials (SNAPs). Authors suggest that mutations of CMT-related genes which originate in post-zygotic stages may be associated with mild phenotypes of peripheral neuropathy.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doenças do Sistema Nervoso Periférico
/
Mosaicismo
/
Proteínas da Mielina
Tipo de estudo:
Etiology_studies
Limite:
Child
/
Humans
/
Male
Idioma:
En
Revista:
J Peripher Nerv Syst
Assunto da revista:
NEUROLOGIA
Ano de publicação:
2012
Tipo de documento:
Article
País de afiliação:
Itália