2018年8月1日
A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia
European Journal of Medical Genetics
- 巻
- 61
- 号
- 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
- ID情報
-
- DOI : 10.1016/j.ejmg.2018.03.003
- ISSN : 1878-0849
- ISSN : 1769-7212
- PubMed ID : 29510241
- SCOPUS ID : 85043253820