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


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2016-10

AUTHORS

Mio Hamatani, Naoto Jingami, Yoshinori Tsurusaki, Shino Shimada, Keiko Shimojima, Megumi Asada-Utsugi, Kenji Yoshinaga, Norihito Uemura, Hirofumi Yamashita, Kengo Uemura, Ryosuke Takahashi, Naomichi Matsumoto, Toshiyuki Yamamoto

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. More... »

PAGES

899-902

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/jhg.2016.64

DOI

http://dx.doi.org/10.1038/jhg.2016.64

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1020355727

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/27251004


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