Article
The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations.
Journal of human genetics - 1 Oct 2016
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
Abstract excerpt
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...
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