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

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 consi...

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Bibliographic Details
Published in:Journal of human genetics 2016-10, Vol.61 (10), p.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: Article
Language:English
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
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Summary: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.
ISSN:1434-5161
1435-232X
DOI:10.1038/jhg.2016.64