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

研究成果: Article査読

5 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)927-929
ページ数3
ジャーナルJournal of Human Genetics
62
10
DOI
出版ステータスPublished - 2017 10月 1

ASJC Scopus subject areas

  • 遺伝学
  • 遺伝学(臨床)

フィンガープリント

「Siblings with optic neuropathy and RTN4IP1 mutation」の研究トピックを掘り下げます。これらがまとまってユニークなフィンガープリントを構成します。

引用スタイル