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

Research output: Contribution to journalArticlepeer-review

7 Citations (Scopus)

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.

Original languageEnglish
Article number15048
JournalHuman Genome Variation
Volume2
Issue number1
DOIs
Publication statusPublished - 2015

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics

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