A novel STXBP1 mutation causes typical Rett syndrome in a Japanese girl

作者：Yuge Kotaro; Iwama Kazuhiro; Yonee Chihiro; Matsufuji Mayumi; Sano Nozomi; Saikusa Tomoko; Yae Yukako; Yamashita Yushiro; Mizuguchi Takeshi; Matsumoto Naomichi; Matsuishi Toyojiro^*

来源：Brain & Development, 2018, 40(6): 493-497.

DOI：10.1016/j.braindev.2018.02.002

• Typical Rett syndrome
• STXBP/mutation
• West syndrome
• Japanese girl

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 (STXBPI) frameshift mutation (c.60delG, p.Lys21 Argfs*16). She showed epilepsy at one year of age, regression of acquired psychomotor abilities thereafter, and exhibited stereotypic hand and limb movements at 3 years of age. Her epilepsy onset was earlier than is typical for RTT patients. However, she fully met the 2010 diagnostic criteria of typical RTT. STXBPI mutations cause early infantile epileptic encephalopathy (EIEE), various intractable epilepsics, and neurodevelopmental disorders. However, the case described here presented a unique clinical presentation of typical RTT without EIEE and a novel STXBPI mutation.

• 出版日期2018-6