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

doi:10.51040/dkmj.2023-054

This article has now been updated. Please use the final version.

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

Author information

Susumu Sasaki
Department of Pediatrics, Dokkyo Medical University Saitama Medical Center, Saitama, Japan
Hisashi Itabashi
Department of Pediatrics, Dokkyo Medical University Saitama Medical Center, Saitama, Japan
Yoshitaka Minowa
Department of Pediatrics, Dokkyo Medical University Saitama Medical Center, Saitama, Japan
Chiharu Miyayama
Department of Pediatrics, Dokkyo Medical University Saitama Medical Center, Saitama, Japan
Yuji Oto
Department of Pediatrics, Dokkyo Medical University Saitama Medical Center, Saitama, Japan
Akihisa Nitta
Department of Pediatrics, Dokkyo Medical University Saitama Medical Center, Saitama, Japan
Mamiko Yamada
Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan
Hisato Suzuki
Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan
Kenjiro Kosaki
Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan
Tomoyo Matsubara
Department of Pediatrics, Dokkyo Medical University Saitama Medical Center, Saitama, Japan

Keywords: whole exome sequencing, failure to thrive, hypertonia, microcephaly, missense variant

JOURNAL OPEN ACCESS Advance online publication

Article ID: 2023-054

DOI https://doi.org/10.51040/dkmj.2023-054

The final version of this article is now available: Vol. 3 (2024), No. 4 pp. 298-302

Details

Abstract

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.

Corresponding author

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