Dokkyo Medical Journal
Online ISSN : 2436-522X
Print ISSN : 2436-5211
Case Report
Novel Variants in AARS1-related White Matter Disease: A Case Report
Susumu Sasaki, Hisashi Itabashi, Yoshitaka Minowa, Chiharu Miyayama, Yuji Oto, Akihisa Nitta, Mamiko Yamada, Hisato Suzuki, Kenjiro Kosaki, Tomoyo Matsubara
著者情報
キーワード: whole exome sequencing, failure to thrive, hypertonia, microcephaly, missense variant
ジャーナル オープンアクセス

2024 年 3 巻 4 号 p. 298-302

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We report a case of 1-year-old Japanese girl exhibiting severe developmental delay, microcephaly, gastroesophageal reflux, and failure to thrive. Whole exome sequencing revealed likely pathogenic, novel compound heterozygous AARS1 missense variants, inherited from her parents. In cases of severe developmental delay with white matter abnormalities and feeding difficulties, AARS1 abnormalities should be listed as a differential disease.

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© 2024 Dokkyo Medical Society

This article is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (https://creativecommons.org/licenses/by-nc-nd/4.0/).
https://creativecommons.org/licenses/by-nc-nd/4.0/
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