Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) .
Neurogenetics
; 13(1): 73-6, 2012 Feb.
Article
en En
| MEDLINE
| ID: mdl-22290197
ABSTRACT
We recently identified a new locus for spastic paraplegia type 47 (SPG47) in a consanguineous Arabic family with two affected siblings with progressive spastic paraparesis,intellectual disability, seizures, periventricular white matter changes and thin corpus callosum. Using exome sequencing, we now identified a novel AP4B1 frameshift mutation (c.664delC) in this family. This mutation was homozygous in both affected siblings and heterozygous in both parents. The mutant allele was absent in 316 Caucasian and 200 ethnically matched control chromosomes. We propose that AP4B1 mutations cause SPG47 and should be considered in early onset spastic paraplegia with intellectual disability.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Paraplejía Espástica Hereditaria
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Mutación del Sistema de Lectura
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Complejo 4 de Proteína Adaptadora
Límite:
Female
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Humans
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Male
Idioma:
En
Revista:
Neurogenetics
Asunto de la revista:
GENETICA
/
NEUROLOGIA
Año:
2012
Tipo del documento:
Article
País de afiliación:
Alemania