title: The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations.
abstract: Even now, only a portion of leukodystrophy patients are correctly diagnosed, though various causative genes have been identified. In the present report, we describe a case of adult-onset leukodystrophy in a woman with ovarian failure. By whole-exome sequencing, a compound heterozygous mutation consisting of NM_020745.3 (AARS2_v001):c.1145C>A and NM_020745.3 (AARS2_v001):c.2255+1G>A was identified. Neither of the mutations has been previously reported, and this is the first report of alanyl-transfer RNA synthetase 2 mutation in Asia. We anticipate that further studies of the molecular basis of leukodystrophy will provide insight into its pathogenesis and hopefully lead to sophisticated diagnostic and treatment strategies.
authors.affiliation: Department of Neurology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Mio
authors.initials: M
authors.lastname: Hamatani
authors.affiliation: Department of Neurology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Naoto
authors.initials: N
authors.lastname: Jingami
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
authors.forename: Yoshinori
authors.initials: Y
authors.lastname: Tsurusaki
authors.affiliation: Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan.
authors.forename: Shino
authors.initials: S
authors.lastname: Shimada
authors.affiliation: Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan.
authors.forename: Keiko
authors.initials: K
authors.lastname: Shimojima
authors.affiliation: Department of Neurology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Megumi
authors.initials: M
authors.lastname: Asada-Utsugi
authors.affiliation: Department of Neurology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Kenji
authors.initials: K
authors.lastname: Yoshinaga
authors.affiliation: Department of Neurology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Norihito
authors.initials: N
authors.lastname: Uemura
authors.affiliation: Department of Neurology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Yamashita
authors.affiliation: Department of Neurology, Kyoto University Graduate School of Medicine, Kyoto, Japan.|Department of Neurology, Ishiki Hospital, Kagoshima, Japan.
authors.forename: Kengo
authors.initials: K
authors.lastname: Uemura
authors.affiliation: Department of Neurology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Ryosuke
authors.initials: R
authors.lastname: Takahashi
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
authors.affiliation: Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan.
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Yamamoto
mesh_terms: D000328:Adult; D000412:Alanine-tRNA Ligase / Q000235:genetics*; D000483:Alleles; D015415:Biomarkers; D001921:Brain / Q000473:pathology; D004252:DNA Mutational Analysis; D005260:Female; D056426:Genetic Loci; D020279:Hereditary Central Nervous System Demyelinating Diseases / Q000175:diagnosis / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007564:Japan; D008279:Magnetic Resonance Imaging; D009154:Mutation; D016649:Primary Ovarian Insufficiency / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome
chemical_list: D015415:Biomarkers; D000412:Alanine-tRNA Ligase