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@ARTICLE{Hengel:155888,
      author       = {Hengel, Holger and Hannan, Shabab B and Dyack, Sarah and
                      MacKay, Sara B and Schatz, Ulrich and Fleger, Martin and
                      Kurringer, Andreas and Balousha, Ghassan and Ghanim, Zaid
                      and Alkuraya, Fowzan S and Alzaidan, Hamad and Alsaif, Hessa
                      S and Mitani, Tadahiro and Bozdogan, Sevcan and Pehlivan,
                      Davut and Lupski, James R and Gleeson, Joseph J and
                      Dehghani, Mohammadreza and Mehrjardi, Mohammad Y V and
                      Sherr, Elliott H and Parks, Kendall C and Argilli, Emanuela
                      and Begtrup, Amber and Galehdari, Hamid and Balousha, Osama
                      and Shariati, Gholamreza and Mazaheri, Neda and Malamiri,
                      Reza A and Pagnamenta, Alistair T and Kingston, Helen and
                      Banka, Siddharth and Jackson, Adam and Osmond, Mathew and
                      Rieß, Angelika and Haack, Tobias B and Nägele, Thomas and
                      Schuster, Stefanie and Hauser, Stefan and Admard, Jakob and
                      Casadei, Nicolas and Velic, Ana and Macek, Boris and
                      Ossowski, Stephan and Houlden, Henry and Maroofian, Reza and
                      Schöls, Ludger},
      collaboration = {Consortium, Care4Rare Canada and Consortium, Genomics
                      England Research},
      title        = {{B}i-allelic loss-of-function variants in {BCAS}3 cause a
                      syndromic neurodevelopmental disorder.},
      journal      = {The American journal of human genetics},
      volume       = {108},
      number       = {6},
      issn         = {0002-9297},
      address      = {New York, NY},
      publisher    = {Elsevier},
      reportid     = {DZNE-2021-01048},
      pages        = {1069 - 1082},
      year         = {2021},
      abstract     = {BCAS3 microtubule-associated cell migration factor (BCAS3)
                      is a large, highly conserved cytoskeletal protein previously
                      proposed to be critical in angiogenesis and implicated in
                      human embryogenesis and tumorigenesis. Here, we established
                      BCAS3 loss-of-function variants as causative for a
                      neurodevelopmental disorder. We report 15 individuals from
                      eight unrelated families with germline bi-allelic
                      loss-of-function variants in BCAS3. All probands share a
                      global developmental delay accompanied by pyramidal tract
                      involvement, microcephaly, short stature, strabismus,
                      dysmorphic facial features, and seizures. The human
                      phenotype is less severe compared with the Bcas3 knockout
                      mouse model and cannot be explained by angiogenic defects
                      alone. Consistent with being loss-of-function alleles, we
                      observed absence of BCAS3 in probands' primary fibroblasts.
                      By comparing the transcriptomic and proteomic data based on
                      probands' fibroblasts with those of the knockout mouse
                      model, we identified similar dysregulated pathways resulting
                      from over-representation analysis, while the dysregulation
                      of some proposed key interactors could not be confirmed.
                      Together with the results from a tissue-specific Drosophila
                      loss-of-function model, we demonstrate a vital role for
                      BCAS3 in neural tissue development.},
      keywords     = {Adolescent / Adult / Animals / Cell Movement / Child /
                      Child, Preschool / Drosophila / Female / Fibroblasts:
                      metabolism / Fibroblasts: pathology / Humans / Infant / Loss
                      of Function Mutation / Loss of Heterozygosity / Male / Mice
                      / Mice, Knockout / Neoplasm Proteins: genetics / Neoplasm
                      Proteins: metabolism / Neurodevelopmental Disorders:
                      etiology / Neurodevelopmental Disorders: metabolism /
                      Neurodevelopmental Disorders: pathology / Pedigree /
                      Proteome: analysis / Young Adult / BCAS3 (Other) / UAS-Gal4
                      (Other) / fibroblasts (Other) / global developmental delay
                      (Other) / microcephaly (Other) / neurodevelopmental disorder
                      (Other) / proteomics (Other) / pyramidal tract involvement
                      (Other) / thin corpus callosum (Other) / transcriptomics
                      (Other) / BCAS3 protein, human (NLM Chemicals) / Neoplasm
                      Proteins (NLM Chemicals) / Proteome (NLM Chemicals)},
      cin          = {AG Gasser / AG Schöls},
      ddc          = {570},
      cid          = {I:(DE-2719)1210000 / I:(DE-2719)5000005},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:34022130},
      pmc          = {pmc:PMC8206390},
      doi          = {10.1016/j.ajhg.2021.04.024},
      url          = {https://pub.dzne.de/record/155888},
}