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

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

医学部臨床遺伝学センター

研究成果: Article › 査読

抄録

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.

本文言語	English
ページ（範囲）	298-302
ページ数	5
ジャーナル	Dokkyo Journal of Medical Sciences
巻	3
号	4
DOI	https://doi.org/10.51040/dkmj.2023-054
出版ステータス	Published - 2024

ASJC Scopus subject areas

医学一般

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10.51040/dkmj.2023-054

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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.",

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AU - Sasaki, Susumu

AU - Itabashi, Hisashi

AU - Minowa, Yoshitaka

AU - Miyayama, Chiharu

AU - Oto, Yuji

AU - Nitta, Akihisa

AU - Yamada, Mamiko

AU - Suzuki, Hisato

AU - Kosaki, Kenjiro

AU - Matsubara, Tomoyo

N1 - Publisher Copyright: © Dokkyo Medical Society 2024.

PY - 2024

Y1 - 2024

N2 - 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.

AB - 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.

KW - failure to thrive

KW - hypertonia

KW - microcephaly

KW - missense variant

KW - whole exome sequencing

UR - https://www.scopus.com/pages/publications/85218415117

UR - https://www.scopus.com/pages/publications/85218415117#tab=citedBy

U2 - 10.51040/dkmj.2023-054

DO - 10.51040/dkmj.2023-054

M3 - Article

AN - SCOPUS:85218415117

SN - 0385-5023

VL - 3

SP - 298

EP - 302

JO - Dokkyo Journal of Medical Sciences

JF - Dokkyo Journal of Medical Sciences

IS - 4

ER -

Novel Variants in AARS1-related White Matter Disease: A Case Report

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