一名日本成年人和两名女孩因DHX30基因的新生错义变异导致NEDMIAL。
A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30.
作者信息
Ueda Kimiko, Araki Atsushi, Fujita Atsushi, Matsumoto Naomichi, Uehara Tomoko, Suzuki Hisato, Takenouchi Toshiki, Kosaki Kenjiro, Okamoto Nobuhiko
机构信息
Department of Medical Genetics, Osaka Women's and Children's Hospital, Izumi, Osaka, Japan.
Nakano Children's Hospital, Osaka, Japan.
出版信息
Hum Genome Var. 2021 Jun 18;8(1):24. doi: 10.1038/s41439-021-00155-9.
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.
莱塞尔等人报告了12例患有严重运动障碍和语言缺失的新型神经发育障碍（NEDMIAL）患者，并在DHX30基因中鉴定出6种不同的新生杂合错义变异。其他临床特征包括肌张力减退、喂养困难、脑异常、自闭症特征、睡眠障碍和关节活动过度。我们报告了一名携带新型错义变异的日本成年人以及两名在DHX30基因中有新生错义变异的女孩。
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