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Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia.
| Content Provider | Semantic Scholar |
|---|---|
| Author | Doi, Hiroshi Ohba, Chihiro Tsurusaki, Yoshinori Miyatake, Satoko Miyake, Noriko Saitsu, Hirotomo Kawamoto, Yuko Yoshida, Tamaki N. Koyano, Shigeru Suzuki, Yume Kuroiwa, Yoshiyuki Tanaka, Fumiaki Matsumoto, Naomichi |
| Copyright Year | 2013 |
| Abstract | Autosomal 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. |
| Starting Page | 799 |
| Ending Page | 803 |
| Page Count | 5 |
| File Format | PDF HTM / HTML |
| Alternate Webpage(s) | https://www.jstage.jst.go.jp/article/internalmedicine/52/14/52_52.0252/_pdf |
| PubMed reference number | 23857099v1 |
| Volume Number | 52 |
| Issue Number | 14 |
| Journal | Internal medicine |
| Language | English |
| Access Restriction | Open |
| Subject Keyword | Autosomal recessive inheritance Cerebellar Ataxia Cerebellar Diseases Frameshift Mutation function Friedreich Ataxia Genetic Heterogeneity Homozygote Hyper-Immunoglobulin E Syndrome, Autosomal Recessive Patients Phenotype SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE SPG7 gene Spastic Ataxia Spastic Paraplegia, Hereditary Tropical Spastic Paraparesis Whole Exome Sequencing nervous system disorder |
| Content Type | Text |
| Resource Type | Article |
