Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47)

Neurogenetics. 2012 Feb;13(1):73-6. doi: 10.1007/s10048-012-0314-0.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Protein Complex 4 / genetics*
  • Adaptor Protein Complex 4 / metabolism
  • Base Sequence
  • Consanguinity
  • DNA Mutational Analysis
  • Ethnicity / genetics
  • Exons
  • Female
  • Frameshift Mutation*
  • Humans
  • Intellectual Disability / genetics
  • Male
  • Spastic Paraplegia, Hereditary / genetics*
  • Spastic Paraplegia, Hereditary / pathology
  • Spastic Paraplegia, Hereditary / physiopathology


  • Adaptor Protein Complex 4