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RESEARCH ARTICLE

Targeted resequencing reveals high-level mosaicism for a novel frameshift variant in WDR45 associated with beta-propeller protein-associated neurodegeneration

Seda Susguna Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey;b Graduate School of Health Sciences, Istanbul University, Istanbul, Turkey;c Department of Medical Biology, Faculty of Medicine, Bezmialem Vakif University, Istanbul, TurkeyView further author information
,
Mert Demireld Department of Neurology, Faculty of Medicine, Hacettepe University, Ankara, TurkeyView further author information
,
Gul Yalcin Cakmaklid Department of Neurology, Faculty of Medicine, Hacettepe University, Ankara, TurkeyView further author information
,
Baris Salmana Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey;b Graduate School of Health Sciences, Istanbul University, Istanbul, TurkeyView further author information
,
Kader K. Oguze Department of Radiology, Faculty of Medicine, Hacettepe University, Ankara, TurkeyView further author information
,
Bulent Elibolf Department of Neurology, Institute of Neurological Sciences and Psychiatry, Hacettepe University School of Medicine, Ankara, TurkeyView further author information
,
Sibel Aylin Ugur Iseria Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, TurkeyCorrespondence[email protected]
View further author information
&
Zuhal Yapicig Department of Neurology, Faculty of Medicine, Istanbul University, Istanbul, TurkeyView further author information
 show all
Received 30 Apr 2022, Accepted 19 Apr 2023, Published online: 04 May 2023

References

  • Hayflick SJ, Kruer MC, Gregory A, et al. beta-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. Brain. 2013;136(Pt 6):1708–1717.
  • Hayflick SJ, Kurian MA, Hogarth P. Neurodegeneration with brain iron accumulation. Handb Clin Neurol. 2018;147:293–305.
  • Hor CHH, Tang BL. Beta-propeller protein-associated neurodegeneration (BPAN) as a genetically simple model of multifaceted neuropathology resulting from defects in autophagy. Rev Neurosci. 2019;30(3):261–277.
  • Zhao YG, Sun L, Miao G, et al. The autophagy gene Wdr45/Wipi4 regulates learning and memory function and axonal homeostasis. Autophagy. 2015;11(6):881–890.
  • Wan H, Wang Q, Chen X, et al. WDR45 contributes to neurodegeneration through regulation of ER homeostasis and neuronal death. Autophagy. 2020;16(3):531–547.
  • Cong Y, So V, Tijssen MAJ, et al. WDR45, one gene associated with multiple neurodevelopmental disorders. Autophagy. 2021;17(12):3908–3923.
  • Stige KE, Gjerde IO, Houge G, et al. Beta-propeller protein-associated neurodegeneration: a case report and review of the literature. Clin Case Rep. 2018;6(2):353–362.
  • Haack TB, Hogarth P, Kruer MC, et al. Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. Am J Hum Genet. 2012;91(6):1144–1149.
  • Akcakaya NH, Salman B, Gormez Z, et al. A novel and mosaic WDR45 nonsense variant causes beta-propeller protein-associated neurodegeneration ıdentified through whole exome sequencing and X chromosome heterozygosity analysis. Neuromolecular Med. 2019;21(1):54–59.
  • Ye Z, Chatterton Z, Pflueger J, et al. Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain. Brain Commun. 2021;3(1):fcaa235.
  • Kruer MC, Boddaert N, Schneider SA, et al. Neuroimaging features of neurodegeneration with brain iron accumulation. AJNR Am J Neuroradiol. 2012;33(3):407–414.
  • Haack TB, Hogarth P, Gregory A, et al. BPAN: the only X-linked dominant NBIA disorder. Int Rev Neurobiol. 2013;110:85–90.
  • Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405–424.
  • Coban-Akdemir Z, White JJ, Song X, et al. Identifying genes whose mutant transcripts cause dominant disease traits by potential gain-of-function alleles. Am J Hum Genet. 2018;103(2):171–187.
  • Wilson JL, Gregory A, Kurian MA, et al. Consensus clinical management guideline for beta-propeller protein-associated neurodegeneration. Dev Med Child Neurol. 2021;63(12):1402–1409.
  • Jain BP, Pandey S. WD40 repeat proteins: signalling scaffold with diverse functions. Protein J. 2018;37(5):391–406.
  • Li D, Roberts R. WD-repeat proteins: structure characteristics, biological function, and their involvement in human diseases. Cell Mol Life Sci. 2001;58(14):2085–2097.
  • Proikas-Cezanne T, Takacs Z, Donnes P, et al. WIPI proteins: essential PtdIns3P effectors at the nascent autophagosome. J Cell Sci. 2015;128(2):207–217.
  • Tang X, Lan X, Song X, et al. De novo variants in WDR45 underlie beta-propeller protein-associated neurodegeneration in five independent families. Mol Genet Genomic Med. 2020;8(11):e1499.

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