Siblings with optic neuropathy and RTN4IP1 mutation

Nobuhiko Okamoto, Fuyuki Miya, Yoshikazu Hatsukawa, Yasuhiro Suzuki, Kazumi Kawato, Yuto Yamamoto, Tatsuhiko Tsunoda, Mitsuhiro Kato, Shinji Saitoh, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Inherited optic neuropathies (IONs) are neurodegenerative disorders affecting the optic nerve and the nervous system. Dominant and recessive IONs are known. Many of the dominant IONs are caused by mutations of OPA1. Autosomal-recessive IONs are rare. OPA10 is an autosomal-recessive ION due to mutations in RTN4IP1. Patients with RTN4IP1 mutations show extraocular manifestations. We report brothers with optic neuropathy who had novel mutations in the RTN4IP1 gene. This is the first report of Japanese patients with OPA10. They showed extraocular manifestations resembling mitochondrial encephalopathy.

Original languageEnglish
Pages (from-to)927-929
Number of pages3
JournalJournal of Human Genetics
Volume62
Issue number10
DOIs
Publication statusPublished - 2017 Oct 1

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Okamoto, N., Miya, F., Hatsukawa, Y., Suzuki, Y., Kawato, K., Yamamoto, Y., Tsunoda, T., Kato, M., Saitoh, S., Yamasaki, M., Kanemura, Y., & Kosaki, K. (2017). Siblings with optic neuropathy and RTN4IP1 mutation. Journal of Human Genetics, 62(10), 927-929. https://doi.org/10.1038/jhg.2017.68