Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy

Toshiyuki Yamamoto; Keiko Shimojima; Takashi Shibata; Mari Akiyama; Makio Oka; Tomoyuki Akiyama; Harumi Yoshinaga; Katsuhiro Kobayashi

doi:10.1038/hgv.2015.48

Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy

Hum Genome Var. 2015 Nov 19:2:15048. doi: 10.1038/hgv.2015.48. eCollection 2015.

Authors

Toshiyuki Yamamoto¹, Keiko Shimojima¹, Takashi Shibata², Mari Akiyama², Makio Oka², Tomoyuki Akiyama², Harumi Yoshinaga², Katsuhiro Kobayashi²

Affiliations

¹ Tokyo Women's Medical University Institute for Integrated Medical Sciences , Tokyo, Japan.
² Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences and Okayama University Hospital , Okayama, Japan.

Abstract

Novel PLA2G6 mutations associated with p.Asp283Asn and a unique intragenic deletion of exons 4 and 5 due to non-allelic homologous recombination were identified in a Japanese female patient with typical infantile neuroaxonal dystrophy. The patient showed progressive tetraplegia beginning at 9 months. An electroencephalogram showed a diffuse increase in fast waves, and brain magnetic resonance imaging showed progressive brain atrophy and T2 hypointensity in the globus pallidus.