Journal
NEUROGENETICS
Volume 13, Issue 1, Pages 73-76Publisher
SPRINGER
DOI: 10.1007/s10048-012-0314-0
Keywords
SPG47; AP4; AP4B1; Spastic paraplegia; Complicated
Categories
Funding
- Deutsche Forschungsgemeinschaft [SCHO 754/5-1]
- e-rare program [01GM0807]
- EC [TECHGENE, FP7-Health 2007-B223143]
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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.
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