J Clin Neurol.
2018 Apr;14(2):248-250. 10.3988/jcn.2018.14.2.248.
Pathogenic Variant of REEP1 in a Korean Family with Autosomal-Dominant Hereditary Spastic Paraplegia
- Affiliations
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- 1Department of Neurology, Gangneung Asan Hospital, University of Ulsan College of Medicine, Gangneung, Korea.
- 2Department of Neurology, Pusan National University Hospital, Pusan National University School of Medicine and Biomedical Research Institute, Busan, Korea.
- 3Department of Neurology, Mokdong Hospital, Ewha Womans University School of Medicine, Seoul, Korea.
- 4Department of Neurology, Yonsei University College of Medicine, Seoul, Korea. ycchoi@yuhs.ac
- KMID: 2407956
- DOI: http://doi.org/10.3988/jcn.2018.14.2.248
Abstract
- No abstract available.
MeSH Terms
Figure
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Fig. 1 Pedigree and sequencing chromatograms in a family with autosomal-dominant hereditary spastic paraplegia. A: Pedigree of the family with a heterozygous pathogenic variant in REEP1. Arrow indicates the proband, whose DNA was used for exome sequencing. Genotypes of REEP1 (c.337C>T) are indicated under each subject (square: male, circle: female, filled: affected, and nonfilled: unaffected). B: Sequencing chromatograms of the c.337C>T (p.Arg113*) pathogenic variant in REEP1. The pathogenic variant in REEP1 detected by whole-exome sequencing was confirmed by capillary sequencing. This heterozygous pathogenic variant completely cosegregated with the affected individuals in this family. Arrows indicate sites of the pathogenic variant.
Reference
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