The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations

• Published in: Journal of human genetics Vol. 61; no. 10; pp. 899 - 902
• Main Authors: Hamatani, Mio, Jingami, Naoto, Tsurusaki, Yoshinori, Shimada, Shino, Shimojima, Keiko, Asada-Utsugi, Megumi, Yoshinaga, Kenji, Uemura, Norihito, Yamashita, Hirofumi, Uemura, Kengo, Takahashi, Ryosuke, Matsumoto, Naomichi, Yamamoto, Toshiyuki
• Format: Journal Article
• Language: English
• Published: England Nature Publishing Group 01.10.2016
• Subjects: Adult; Alanine-tRNA Ligase - genetics; Alleles; Biomarkers; Brain - pathology; DNA Mutational Analysis; Female; Genetic Loci; Hereditary Central Nervous System Demyelinating Diseases - diagnosis; Hereditary Central Nervous System Demyelinating Diseases - genetics; Heterozygote; Humans; Japan; Magnetic Resonance Imaging; Mutation; Primary Ovarian Insufficiency - diagnosis; Primary Ovarian Insufficiency - genetics; Syndrome
• ISSN: 1434-5161; 1435-232X; 1435-232X
• DOI: 10.1038/jhg.2016.64

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.