論文

査読有り
2018年8月1日

A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia

European Journal of Medical Genetics
  • Satoshi Akamine
  • Yoshito Ishizaki
  • Yasunari Sakai
  • Hiroyuki Torisu
  • Ryoko Fukai
  • Noriko Miyake
  • Kazuhiro Ohkubo
  • Hiroshi Koga
  • Masafumi Sanefuji
  • Ayumi Sakata
  • Masahiko Kimura
  • Seiji Yamaguchi
  • Osamu Sakamoto
  • Toshiro Hara
  • Hirotomo Saitsu
  • Naomichi Matsumoto
  • Shouichi Ohga
  • 全て表示

61
8
開始ページ
451
終了ページ
454
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1016/j.ejmg.2018.03.003
出版者・発行元
Elsevier Masson SAS

Mutations in the X-linked gene CDKL5 cause early-onset epileptic encephalopathy and severe developmental delay. Because this disorder predominantly affects females, the full clinical spectrum of male patients remains elusive. We herein report a 16-year-old boy, who suffered from intractable seizures 20 days after birth. Serial electroencephalograms detected recurrent focal epileptiform discharges from age 4 months, which evolved to hypsarrhythmia later in infancy. Mass-spectrometric analyses revealed increase in urinary excretion of methylmalonic acid without perturbed concentrations of propionic acid, homocystein and methionine. Whole-exome sequencing identified a de novo, truncating mutation in CDKL5 (NM_003159.2:c.419dupA, p.Asn140Lysfs*8). Targeted sequencing excluded concomitant mutations in methylmalonic academia-associated genes. No methylmalonic acidemia has been reported in children with CDKL5 disorder. Extensive analyses on organic acid metabolism for males with CDKL5 mutations will gain more insight into their biochemical profiles in infancy.

リンク情報
DOI
https://doi.org/10.1016/j.ejmg.2018.03.003
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/29510241
ID情報
  • DOI : 10.1016/j.ejmg.2018.03.003
  • ISSN : 1878-0849
  • ISSN : 1769-7212
  • PubMed ID : 29510241
  • SCOPUS ID : 85043253820

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