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@ARTICLE{Schlipf:144896,
      author       = {Schlipf, Nina A and Schüle, Rebecca and Klimpe, Sven and
                      Karle, Kathrin N and Synofzik, Matthis and Wolf, Julia and
                      Riess, Olaf and Schöls, Ludger and Bauer, Peter},
      title        = {{AP}5{Z}1/{SPG}48 frequency in autosomal recessive and
                      sporadic spastic paraplegia.},
      journal      = {Molecular genetics $\&$ genomic medicine},
      volume       = {2},
      number       = {5},
      issn         = {2324-9269},
      address      = {Chichester [u.a.]},
      publisher    = {Wiley},
      reportid     = {DZNE-2020-00305},
      pages        = {379-382},
      year         = {2014},
      abstract     = {Hereditary spastic paraplegias (HSP) constitute a rare and
                      highly heterogeneous group of neurodegenerative disorders,
                      defined clinically by progressive lower limb spasticity and
                      pyramidal weakness. Autosomal recessive HSP as well as
                      sporadic cases present a significant diagnostic challenge.
                      Mutations in AP5Z1, a gene playing a role in intracellular
                      membrane trafficking, have been recently reported to be
                      associated with spastic paraplegia type 48 (SPG48). Our
                      objective was to determine the relative frequency and
                      clinical relevance of AP5Z1 mutations in a large cohort of
                      127 HSP patients. We applied a targeted next-generation
                      sequencing approach to analyze all coding exons of the AP5Z1
                      gene. With the output of high-quality reads and a mean
                      coverage of 51-fold, we demonstrated a robust detection of
                      variants. One 43-year-old female with sporadic complicated
                      paraplegia showed two heterozygous nonsynonymous variants of
                      unknown significance (VUS3; p.[R292W];[(T756I)]). Thus,
                      AP5Z1 gene mutations are rare, at least in Europeans. Due to
                      its low frequency, systematic genetic testing for AP5Z1
                      mutations is not recommended until larger studies are
                      performed to add further evidence. Our findings demonstrate
                      that amplicon-based deep sequencing is technically feasible
                      and allows a compact molecular characterization of multiple
                      HSP patients with high accuracy.},
      cin          = {Ext HIH / AG Gasser / Ext UKT / AG Schöls},
      ddc          = {610},
      cid          = {I:(DE-2719)5000057 / I:(DE-2719)1210000 /
                      I:(DE-2719)5000058 / I:(DE-2719)5000005},
      pnm          = {345 - Population Studies and Genetics (POF3-345)},
      pid          = {G:(DE-HGF)POF3-345},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:25333062},
      pmc          = {pmc:PMC4190872},
      doi          = {10.1002/mgg3.87},
      url          = {https://pub.dzne.de/record/144896},
}