論文

査読有り
2015年4月

De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy

CLINICAL GENETICS
  • J. Nakajima
  • N. Okamoto
  • J. Tohyama
  • M. Kato
  • H. Arai
  • O. Funahashi
  • Y. Tsurusaki
  • M. Nakashima
  • H. Kawashima
  • H. Saitsu
  • N. Matsumoto
  • N. Miyake
  • 全て表示

87
4
開始ページ
356
終了ページ
361
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1111/cge.12394
出版者・発行元
WILEY-BLACKWELL

Eukaryotic elongation factor 1, alpha-2 (eEF1A2) protein is involved in protein synthesis, suppression of apoptosis, and regulation of actin function and cytoskeletal structure. EEF1A2 gene is highly expressed in the central nervous system and Eef1a2 knockout mice show the neuronal degeneration. Until now, only one missense mutation (c.208G>A, p.Gly70Ser) in EEF1A2 has been reported in two independent patients with neurological disease. In this report, we described two patients with de novo mutations (c.754G>C, p.Asp252His and c.364G>A, p.Glu122Lys) in EEF1A2 found by whole-exome sequencing. Common clinical features are shared by all four individuals: severe intellectual disability, autistic behavior, absent speech, neonatal hypotonia, epilepsy and progressive microcephaly. Furthermore, the two patients share the similar characteristic facial features including a depressed nasal bridge, tented upper lip, everted lower lip and downturned corners of the mouth. These data strongly indicate that a new recognizable disorder is caused by EEF1A2 mutations.

リンク情報
DOI
https://doi.org/10.1111/cge.12394
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/24697219
Web of Science
https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:000351540700010&DestApp=WOS_CPL
URL
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84925233693&origin=inward
ID情報
  • DOI : 10.1111/cge.12394
  • ISSN : 0009-9163
  • eISSN : 1399-0004
  • PubMed ID : 24697219
  • SCOPUS ID : 84925233693
  • Web of Science ID : WOS:000351540700010

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