論文

査読有り 国際誌
2015年4月

Novel DCX mutation-caused lissencephaly in a boy and very mild heterotopia in his mother.

Pediatrics international : official journal of the Japan Pediatric Society
  • Satoru Takeshita
  • ,
  • Machiko Higuchi
  • ,
  • Megumi Suyama
  • ,
  • Wakato Koide
  • ,
  • Kanemasa Maki
  • ,
  • Katsumi Ushijima
  • ,
  • Kyoko Ban
  • ,
  • Mariko Saito
  • ,
  • Mitsuhiro Kato
  • ,
  • Shinji Saitoh

57
2
開始ページ
321
終了ページ
3
記述言語
英語
掲載種別
DOI
10.1111/ped.12502

We describe a novel mutation in DCX in a family in which a proband boy had classical lissencephaly and his mother had extremely mild subcortical band heterotopia. No factors that would make the mother's symptoms milder, such as somatic mosaicism or skewed X chromosome inactivation, were observed. From this family, we conclude that a DCX mutation causes a pleiotropic phenotype in the female even if X chromosome inactivation pattern is not skewed, and the novel missense mutation in DCX produced relatively mild dysfunction of the doublecortin protein.

リンク情報
DOI
https://doi.org/10.1111/ped.12502
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/25868952

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