neurogenetics

, Volume 13, Issue 1, pp 73–76

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

  • Peter Bauer
  • Esther Leshinsky-Silver
  • Lubov Blumkin
  • Nina Schlipf
  • Christopher Schröder
  • Julia Schicks
  • Dorit Lev
  • Olaf Riess
  • Tally Lerman-Sagie
  • Ludger Schöls
Original Article

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.

Keywords

SPG47 AP4 AP4B1 Spastic paraplegia Complicated 

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Copyright information

© Springer-Verlag 2012

Authors and Affiliations

  • Peter Bauer
    • 1
  • Esther Leshinsky-Silver
    • 2
    • 3
    • 4
  • Lubov Blumkin
    • 2
    • 3
    • 5
  • Nina Schlipf
    • 1
  • Christopher Schröder
    • 1
  • Julia Schicks
    • 6
  • Dorit Lev
    • 4
    • 7
  • Olaf Riess
    • 1
  • Tally Lerman-Sagie
    • 2
    • 3
    • 5
  • Ludger Schöls
    • 6
  1. 1.Department of Medical GeneticsUniversity of TübingenTübingenGermany
  2. 2.Metabolic-Neurogenetic Clinic, Wolfson Medical CenterHolonIsrael
  3. 3.Sackler School of MedicineTel-Aviv UniversityTel-AvivIsrael
  4. 4.Molecular Genetics Laboratory, Wolfson Medical Center, Holon, Sackler School of MedicineTel-Aviv UniversityTel-AvivIsrael
  5. 5.Pediatric Neurology Unit, Wolfson Medical Center, Holon, Sackler School of Medicine, Tel-Aviv UniversityTel-AvivIsrael
  6. 6.Department of Neurology, Hertie-Institute of Clinical Brain Research and German Center of Neurodegenerative Diseases (DZNE)University of TübingenTübingenGermany
  7. 7.Institute of Medical Genetics, Wolfson Medical Center, Holon, Sackler School of MedicineTel-Aviv UniversityTel-AvivIsrael

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