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Original Articles

PANK2 p.A170fs:a novel pathogenetic mutation, compound with PANK2 p.R440P, causing pantothenate kinase Associated neurodegeneration in a Chinese family

, , , & ORCID Icon
Pages 582-588 | Received 30 Dec 2019, Accepted 17 Sep 2020, Published online: 14 Oct 2020

References

  • Salomao RP, Pedroso JL, Gama MT, et al. A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging. Arq Neuropsiquiatr. 2016;74(7):587–596.
  • Gregory A, Polster BJ, Hayflick SJ. Clinical and genetic delineation of neurodegeneration with brain iron accumulation. J Med Genet. 2009;46(2):73–80.
  • Mak CM, Sheng B, Lee HH, et al. Young-onset parkinsonism in a Hong Kong Chinese man with adult-onset Hallervorden-Spatz syndrome. Int J Neurosci. 2011;121(4):224–227.
  • Hayflick SJ, Westaway SK, Levinson B, et al. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med. 2003;348(1):33–40.
  • Hayflick SJ. Unraveling the Hallervorden-Spatz syndrome: pantothenate kinase-associated neurodegeneration is the name. Curr Opin Pediatr. 2003;15(6):572–577.
  • Li A, Paudel R, Johnson R, et al. Pantothenate kinase-associated neurodegeneration is not a synucleinopathy. Neuropathol Appl Neurobiol. 2013;39(2):121–131.
  • Kruer MC, Hiken M, Gregory A, et al. Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration. Brain. 2011;134(Pt 4):947–958.
  • Wiethoff S, Houlden H. Neurodegeneration with brain iron accumulation. Handb Clin Neurol. 2017;145:157–166.
  • Palmeri R, Lo Buono V, Berenati M, et al. S. Neuropsychological functions and psychiatric symptoms in late-onset manifestation of pantothenate kinase-associated neurodegeneration: a clinical case report. Int J Neurosci. 2020 May;130(5):490–492.
  • Zhou B, Westaway SK, Levinson B, et al. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. Nat Genet. 2001;28(4):345–349.
  • Saleheen D, Ali T, Aly Z, et al. Novel mutation in the PANK2 gene leads to pantothenate kinase-associated neurodegeneration in a Pakistani family. Pediatr Neurol. 2007;37(4):296–298.
  • Cheng Y, Liu YT, Yang ZH, et al. Novel compound heterozygous PANK2 gene mutations in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration. Int J Neurosci. 2018;128(12):1109–1113.
  • Li YF, Li HF, Zhang YB, et al. Novel homozygous PANK2 mutation identified in a consanguineous Chinese pedigree with pantothenate kinase-associated neurodegeneration. Biomed Rep. 2016;5(2):217–220.
  • Wu YR, Chen CM, Chao CY, et al. Pantothenate kinase-associated neurodegeneration in two Taiwanese siblings: identification of a novel PANK2 gene mutation. Mov Disord. 2009;24(6):940–941.
  • Swaiman KF. Hallervorden-Spatz syndrome. Pediatr Neurol. 2001;25(2):102–108.
  • Swaiman KF. Hallervorden-Spatz syndrome and brain iron metabolism. Arch Neurol. 1991;48(12):1285–1293.
  • Li H, Durbin R. Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics. 2010;26(5):589–595.
  • Van der Auwera GA, Carneiro MO, Hartl C, et al. From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline. Curr Protoc Bioinformatics. 2013;43:11 10 11–33.
  • Yang F, Sun L, Zhu X, et al. Identification of new genetic variants of HLA-DQB1 associated with human longevity and lipid homeostasis–a cross-sectional study in a Chinese population. Aging (Albany NY). 2017;9(11):2316–2333.
  • Venselaar H, Te Beek TA, Kuipers RK, et al. Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces. BMC Bioinf. 2010;11(1):548.
  • Kumar S, Stecher G, Li M, et al. MEGA X: Molecular Evolutionary Genetics Analysis across Computing Platforms. Mol Biol Evol. 2018;35(6):1547–1549.
  • Richards S, Aziz N, Bale S, ACMG Laboratory Quality Assurance Committee, 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;17(5):405–424.
  • Lim BC, Ki CS, Cho A, et al. Pantothenate kinase-associated neurodegeneration in Korea: recurrent R440P mutation in PANK2 and outcome of deep brain stimulation. Eur J Neurol. 2012;19(4):556–561.
  • Seo JH, Song SK, Lee PH. A Novel PANK2 mutation in a patient with atypical pantothenate-kinase-associated neurodegeneration presenting with adult-onset parkinsonism. J Clin Neurol. 2009;5(4):192–194.
  • Yoon WT, Lee WY, Shin HY, et al. Novel PANK2 gene mutations in korean patient with pantothenate kinase-associated neurodegeneration presenting unilateral dystonic tremor. Mov Disord. 2010;25(2):245–247.
  • Herskind AM, McGue M, Holm NV, et al. The heritability of human longevity: a population-based study of 2872 Danish twin pairs born 1870-1900. Hum Genet. 1996;97(3):319–323.
  • Kerber RA, O'Brien E, Smith KR, et al. Familial excess longevity in Utah genealogies. J Gerontol A Biol Sci Med Sci. 2001;56(3):B130–139.
  • McGue M, Vaupel JW, Holm N, et al. Longevity is moderately heritable in a sample of Danish twins born 1870-1880. J Gerontol. 1993;48(6):B237–244.
  • Mitchell BD, Hsueh WC, King TM, et al. Heritability of life span in the Old Order Amish. Am J Med Genet. 2001;102(4):346–352.
  • Franceschi C, Bonafe M. Centenarians as a model for healthy aging. Biochem Soc Trans. 2003;31(2):457–461.
  • Hitt R, Young-Xu Y, Silver M, et al. Centenarians: the older you get, the healthier you have been. Lancet. 1999;354(9179):652.
  • Terry DF, Wilcox M, McCormick MA, et al. Cardiovascular advantages among the offspring of centenarians. J Gerontol A Biol Sci Med Sci. 2003;58(5):M425–431.
  • Eline Slagboom P, van den Berg N, Deelen J. Phenome and genome based studies into human ageing and longevity: An overview. Biochim Biophys Acta Mol Basis Dis. 2018;1864(9 Pt A):2742–2751.
  • He YH, Lu X, Bi MX, et al. The reduction of vascular disease risk mutations contributes to longevity in the Chinese population. Meta Gene. 2014;2:761–768.
  • Rana A, Seinen E, Siudeja K, et al. Pantethine rescues a Drosophila model for pantothenate kinase-associated neurodegeneration. Proc Natl Acad Sci Usa. 2010;107(15):6988–6993.
  • Wu Z, Li C, Lv S, et al. Pantothenate kinase-associated neurodegeneration: insights from a Drosophila model. Hum Mol Genet. 2009;18(19):3659–3672.
  • Brunetti D, Dusi S, Giordano C, et al. Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model. Brain. 2014;137(Pt 1):57–68.
  • Kuo YM, Duncan JL, Westaway SK, et al. Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia. Hum Mol Genet. 2005;14(1):49–57.
  • Brunetti D, Dusi S, Morbin M, et al. Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model. Hum Mol Genet. 2012;21(24):5294–5305.
  • Arber C, Angelova PR, Wiethoff S, et al. iPSC-derived neuronal models of PANK2-associated neurodegeneration reveal mitochondrial dysfunction contributing to early disease. PLoS One. 2017;12(9):e0184104

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