Article
A novel STXBP1 mutation causes typical Rett syndrome in a Japanese girl.
Brain & development - 1 Jun 2018
Yuge Kotaro, Iwama Kazuhiro, Yonee Chihiro, Matsufuji Mayumi, Sano Nozomi, Saikusa Tomoko, Yae Yukako, Yamashita Yushiro, Mizuguchi Takeshi, Matsumoto Naomichi, Matsuishi Toyojiro
Abstract excerpt
Rett syndrome (RTT) is a neurodevelopmental disorder mostly caused by mutations in Methyl-CpG-binding protein 2 (MECP2); however, mutations in various other genes may lead to RTT-like phenotypes. Here, we report the first case of a Japanese girl with RTT caused by a novel syntaxin-binding protein 1 (STXBP1) frameshift mutation (c.60delG, p.Lys21Argfs*16). She showed epilepsy at one year of age, regression of...
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