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

Abstract 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...

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Main Authors:	Kimiko Ueda, Atsushi Araki, Atsushi Fujita, Naomichi Matsumoto, Tomoko Uehara, Hisato Suzuki, Toshiki Takenouchi, Kenjiro Kosaki, Nobuhiko Okamoto
Format:	Article
Language:	English
Published:	Nature Publishing Group 2021-06-01
Series:	Human Genome Variation
Online Access:	https://doi.org/10.1038/s41439-021-00155-9

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spelling	doaj-03f988b221ed4f10b388be434f85cfbb2021-06-20T11:15:49ZengNature Publishing GroupHuman Genome Variation2054-345X2021-06-01811410.1038/s41439-021-00155-9A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30Kimiko Ueda0Atsushi Araki1Atsushi Fujita2Naomichi Matsumoto3Tomoko Uehara4Hisato Suzuki5Toshiki Takenouchi6Kenjiro Kosaki7Nobuhiko Okamoto8Department of Medical Genetics, Osaka Women’s and Children’s Hospital, IzumiNakano Children’s HospitalDepartment of Human Genetics, Yokohama City University Graduate School of MedicineDepartment of Human Genetics, Yokohama City University Graduate School of MedicineCenter for Medical Genetics, Keio University School of MedicineCenter for Medical Genetics, Keio University School of MedicineDepartment of Pediatrics, Keio University HospitalCenter for Medical Genetics, Keio University School of MedicineDepartment of Medical Genetics, Osaka Women’s and Children’s Hospital, IzumiAbstract 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.https://doi.org/10.1038/s41439-021-00155-9
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Kimiko Ueda Atsushi Araki Atsushi Fujita Naomichi Matsumoto Tomoko Uehara Hisato Suzuki Toshiki Takenouchi Kenjiro Kosaki Nobuhiko Okamoto
spellingShingle	Kimiko Ueda Atsushi Araki Atsushi Fujita Naomichi Matsumoto Tomoko Uehara Hisato Suzuki Toshiki Takenouchi Kenjiro Kosaki Nobuhiko Okamoto A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30 Human Genome Variation
author_facet	Kimiko Ueda Atsushi Araki Atsushi Fujita Naomichi Matsumoto Tomoko Uehara Hisato Suzuki Toshiki Takenouchi Kenjiro Kosaki Nobuhiko Okamoto
author_sort	Kimiko Ueda
title	A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30
title_short	A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30
title_full	A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30
title_fullStr	A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30
title_full_unstemmed	A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30
title_sort	japanese adult and two girls with nedmial caused by de novo missense variants in dhx30
publisher	Nature Publishing Group
series	Human Genome Variation
issn	2054-345X
publishDate	2021-06-01
description	Abstract 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.
url	https://doi.org/10.1038/s41439-021-00155-9
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A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30

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