Purplish granules as a cytological signature of cortical developmental disorders caused by pathogenic variants in WDR81.

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  • Additional Information
    • Source:
      Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 7610369 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-8652 (Electronic) Linking ISSN: 03618609 NLM ISO Abbreviation: Am J Hematol Subsets: MEDLINE
    • Publication Information:
      Publication: New York Ny : Wiley-Blackwell
      Original Publication: New York, Liss.
    • Subject Terms:
      Cytoplasmic Granules*/genetics ; Cytoplasmic Granules*/metabolism; Humans ; Male ; Female ; Mutation ; Malformations of Cortical Development/genetics ; Malformations of Cortical Development/pathology
    • References:
      Bahi‐Buisson N, Poirier K, Fourniol F, et al. The wide spectrum of tubulinopathies: what are the key features for the diagnosis? Brain. 2014;137(6):1676‐1700.
      Cavallin M, Rujano MA, Bednarek N, et al. WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells. Brain. 2017;140(10):2597‐2609.
      Kalmár T, Szakszon K, Maróti Z, et al. A novel homozygous frameshift WDR81 mutation associated with microlissencephaly, corpus callosum agenesis, and pontocerebellar hypoplasia. J Pediatr Genet. 2021;10(2):159‐163.
      Traka M, Millen KJ, Collins D, et al. WDR81 is necessary for Purkinje and photoreceptor cell survival. J Neurosci. 2013;33(16):6834‐6844.
      Carpentieri JA, Di Cicco A, Lampic M, et al. Endosomal trafficking defects alter neural progenitor proliferation and cause microcephaly. Nat Commun. 2022;13(1):16.
      Liu X, Li Y, Wang X, et al. The BEACH‐containing protein WDR81 coordinates p62 and LC3C to promote aggrephagy. J Cell Biol. 2017;216(5):1301‐1320.
      Cullinane AR, Schäffer AA, Huizing M. The BEACH is hot: a LYST of emerging roles for BEACH‐domain containing proteins in human disease: BEACH‐domain containing proteins in human disease. Traffic. 2013;14(7):749‐766.
      Karim MA, Suzuki K, Fukai K, et al. Apparent genotype‐phenotype correlation in childhood, adolescent, and adult Chediak‐Higashi syndrome. Am J Med Genet. 2002;108(1):16‐22.
      Mulhern MS, Stumpel C, Stong N, et al. NBEA : developmental disease gene with early generalized epilepsy phenotypes. Ann Neurol. 2018;84(5):788‐795.
      Castermans D, Volders K, Crepel A, et al. SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense‐core vesicles. Hum Mol Genet. 2010;19(7):1368‐1378.
    • Publication Date:
      Date Created: 20240417 Date Completed: 20241011 Latest Revision: 20241011
    • Publication Date:
      20241011
    • Accession Number:
      10.1002/ajh.27330
    • Accession Number:
      38629724