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.
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Acknowledgments
This study has been supported by a grant of the Deutsche Forschungsgemeinschaft (SCHO 754/5-1) and funding from the e-rare program to EUROSPA (01GM0807) and an EC grant (TECHGENE; FP7-Health 2007-B223143).
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Peter Bauer, Esther Leshinsky-Silver, and Lubov Blumkin contributed equally to this work.
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Bauer, P., Leshinsky-Silver, E., Blumkin, L. et al. Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47). Neurogenetics 13, 73–76 (2012). https://doi.org/10.1007/s10048-012-0314-0
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DOI: https://doi.org/10.1007/s10048-012-0314-0