TY - JOUR
T1 - A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30
AU - Ueda, Kimiko
AU - Araki, Atsushi
AU - Fujita, Atsushi
AU - Matsumoto, Naomichi
AU - Uehara, Tomoko
AU - Suzuki, Hisato
AU - Takenouchi, Toshiki
AU - Kosaki, Kenjiro
AU - Okamoto, Nobuhiko
N1 - Funding Information:
This study was supported by the initiative on rare and undiagnosed diseases run by the Japan Agency for Medical Research and Development. This study was supported by the initiative on rare and undiagnosed diseases run by the Japan Agency for Medical Research and Development.
Publisher Copyright:
© 2021, The Author(s).
PY - 2021/12
Y1 - 2021/12
N2 - 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.
AB - 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.
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U2 - 10.1038/s41439-021-00155-9
DO - 10.1038/s41439-021-00155-9
M3 - Article
AN - SCOPUS:85108168659
SN - 2054-345X
VL - 8
JO - Human Genome Variation
JF - Human Genome Variation
IS - 1
M1 - 24
ER -