Akagi Motohiro, Mohri Ikuko, Iwatani Yoshiko, Kagitani-Shimono Kuriko, Okinaga Takeshi, Sakai Norio, Ozono Keiichi, Taniike Masako
Department of Developmental Medicine (Pediatrics), Osaka University Graduate School of Medicine, Suita City, Osaka, Japan.
Brain Dev. 2012 Feb;34(2):156-62. doi: 10.1016/j.braindev.2011.02.003. Epub 2011 Feb 26.
Giant axonal neuropathy (GAN) is a rare autosomal recessive disorder that affects both the peripheral nerves and central nervous system. Since the discovery in 2000 of the gigaxonin gene on chromosome 16q24.1 to be causative, more than 40 GAN mutations have been reported from different racial backgrounds. We report the clinicogenetic findings of a 24-year-old Japanese man with GAN. He had consanguineous parents and showed the phenotype of classical severe GAN. We found a novel homozygous nonsense mutation (p.R162X) in the GAN gene. This is the first genetically-determined Japanese case of GAN, with a follow-up period of more than 15 years. In addition, this mutation is novel. We also reviewed previous reports of GAN to see whether there is any genotype-phenotype correlation.
巨大轴索性神经病（GAN）是一种罕见的常染色体隐性疾病，会影响周围神经和中枢神经系统。自2000年发现位于16号染色体q24.1上的巨轴素基因是致病基因以来，已报道了来自不同种族背景的40多种GAN突变。我们报告了一名24岁日本男性GAN患者的临床遗传学研究结果。他的父母是近亲，表现出典型重度GAN的表型。我们在GAN基因中发现了一个新的纯合无义突变（p.R162X）。这是首例经基因检测确诊的日本GAN病例，随访期超过15年。此外，该突变是新发现的。我们还回顾了以往关于GAN的报道，以观察是否存在基因型与表型的相关性。
