Journal of Genetic Medicine

  • 제16권1호
  • /
  • Pages.19-22
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  • 2019
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  • 1226-1769(pISSN)
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  • 2383-8442(eISSN)
대한의학유전학회 (Korean Society of Medical Genetics and Genomics)
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A novel frameshift mutation of PRRT2 in a family with infantile convulsions and choreoathetosis syndrome: c.640delinsCC (p.Ala214ProfsTer11)

  • Park, Bo Mi (Department of Pediatrics, Chonnam National University Medical School) ;
  • Kim, Young Ok (Department of Pediatrics, Chonnam National University Medical School) ;
  • Kim, Myeong-Kyu (Department of Neurology, Chonnam National University Medical School) ;
  • Woo, Young Jong (Department of Pediatrics, Chonnam National University Medical School)
  • 투고 : 2019.03.26
  • 심사 : 2019.04.30
  • 발행 : 2019.06.30
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초록

The infantile convulsions and choreoathetosis (ICCA) syndrome is defined when two overlapping clinical features of benign familial infantile epilepsy (BFIE) and paroxysmal kinesigenic dyskinesia (PKD) are present in an individual or a family. Since the gene encoding proline-rich transmembrane protein 2 (PRRT2) was first identified in Han Chinese families with PKD, mutations of PRRT2 have additionally been reported in patients with BFIE and ICCA. We attempted to identify the genetic etiology in an ICCA family where the proband, her elder sister, and a maternal male cousin had BFIE, and her mother had PKD. Whole-exome sequencing performed in the proband and her sister and mother identified a novel pathogenic mutation of PRRT2 (c.640delinsCC; p.Ala214ProfsTer11), which was verified by Sanger sequencing. This frameshift PRRT2 mutation located near the genetic hot spot of base 649_650 results in the premature termination of the protein, as do most previously reported mutations in BFIE, ICCA, and PKD.

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참고문헌

  1. Szepetowski P, Rochette J, Berquin P, Piussan C, Lathrop GM, Monaco AP. Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16. Am J Hum Genet 1997;61:889-98. https://doi.org/10.1086/514877
  2. Swoboda KJ, Soong B, McKenna C, Brunt ER, Litt M, Bale JF Jr, et al. Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies. Neurology 2000;55:224-30. https://doi.org/10.1212/WNL.55.2.224
  3. Heron SE, Grinton BE, Kivity S, Afawi Z, Zuberi SM, Hughes JN, et al. PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. Am J Hum Genet 2012;90:152-60. https://doi.org/10.1016/j.ajhg.2011.12.003
  4. Lee HY, Huang Y, Bruneau N, Roll P, Roberson ED, Hermann M, et al. Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep 2012;1:2-12. https://doi.org/10.1016/j.celrep.2011.11.001
  5. Ono S, Yoshiura K, Kinoshita A, Kikuchi T, Nakane Y, Kato N, et al. Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions. J Hum Genet 2012;57:338-41. https://doi.org/10.1038/jhg.2012.23
  6. Heron SE, Dibbens LM. Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy. J Med Genet 2013;50:133-9. https://doi.org/10.1136/jmedgenet-2012-101406
  7. Schubert J, Paravidino R, Becker F, Berger A, Bebek N, Bianchi A, et al. PRRT2 mutations are the major cause of benign familial infantile seizures. Hum Mutat 2012;33:1439-43. https://doi.org/10.1002/humu.22126
  8. Chen WJ, Lin Y, Xiong ZQ, Wei W, Ni W, Tan GH, et al. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat Genet 2011;43:1252-5. https://doi.org/10.1038/ng.1008
  9. Wang JL, Cao L, Li XH, Hu ZM, Li JD, Zhang JG, et al. Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias. Brain 2011;134:3493-501. https://doi.org/10.1093/brain/awr289
  10. Meneret A, Grabli D, Depienne C, Gaudebout C, Picard F, Durr A, et al. PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population. Neurology 2012;79:170-4. https://doi.org/10.1212/WNL.0b013e31825f06c3
  11. Kang HJ, Kawasawa YI, Cheng F, Zhu Y, Xu X, Li M, et al. Spatiotemporal transcriptome of the human brain. Nature 2011;478:483-9. https://doi.org/10.1038/nature10523