A splicing mutation of proteolipid protein 1 in Pelizaeus-Merzbacher disease.
Brain Dev
; 38(6): 581-4, 2016 Jun.
Article
em En
| MEDLINE
| ID: mdl-26725305
ABSTRACT
A patient with an unusually mild form of Pelizaeus-Merzbacher disease was studied. Clinically, mild developmental delay with acquisition of assisted walking at 16months and mild spastic tetraplegia were evident, but no nystagmus, cerebellar, or extra-pyramidal signs were present. PLP1 mutation analysis revealed a nucleotide substitution adjacent to the acceptor site of intron 3, NM_000533.4c.454-9T>G. Expression analysis using the patient's leukocytes demonstrated an additional abnormal transcript including the last 118bp of intron 3. In silico prediction analysis suggested the reduction of wild-type acceptor activity, which presumably evokes the cryptic splicing variant. Putative cryptic transcript results in premature termination, which may explain the mild clinical phenotype observed in this patient.
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Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Proteína Proteolipídica de Mielina
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Doença de Pelizaeus-Merzbacher
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Mutação
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article