A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30

Kimiko Ueda, Atsushi Araki, Atsushi Fujita, Naomichi Matsumoto, Tomoko Uehara, Hisato Suzuki, Toshiki Takenouchi, Kenjiro Kosaki, Nobuhiko Okamoto

研究成果: Article査読

抄録

Lessel et al. reported a novel neurodevelopmental disorder with severe motor impairment and absent language (NEDMIAL) in 12 individuals and identified six different de novo heterozygous missense variants in DHX30. The other clinical features included muscular hypotonia, feeding difficulties, brain anomalies, autistic features, sleep disturbances, and joint hypermobility. We report a Japanese adult with a novel missense variant and two girls with de novo missense variants in DHX30.

本文言語English
論文番号24
ジャーナルHuman Genome Variation
8
1
DOI
出版ステータスPublished - 2021 12

ASJC Scopus subject areas

  • 生化学
  • 分子生物学
  • 遺伝学

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