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- Hiroshi Doi, Chihiro Ohba, Yoshinori Tsurusaki, Satoko Miyatake, Noriko Miyake, Hirotomo Saitsu, Yuko Kawamoto, Tamaki Yoshida, Shigeru Koyano, Yume Suzuki, Yoshiyuki Kuroiwa, Fumiaki Tanaka, and Naomichi Matsumoto.
- Department of Human Genetics, Yokohama City University, Japan.
- Intern. Med. 2013 Jan 1; 52 (14): 162916331629-33.
AbstractAutosomal recessive cerebellar ataxias and autosomal recessive hereditary spastic paraplegias are clinically and genetically heterogeneous disorders with diverse neurological and non-neurological features. We herein describe a Japanese patient with a slowly progressive form of ataxia and spastic paraplegia. Using whole exome sequencing, we identified a novel homozygous frameshift mutation in SPG7, encoding paraplegin, in this patient. This is the first report of an SPG7 mutation in the Japanese population. For disorders previously undetected in a particular population, or unrecognized/atypical phenotypes, exome sequencing may facilitate molecular diagnosis.
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