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Identification of IFRD1 variant in a Han Chinese family with autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia

Authors
  • Lin, Pengfei1
  • Zhang, Dong1
  • Xu, Guangrun1
  • Yan, Chuanzhu1, 2
  • 1 Shandong University, Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital, Jinan, Shandong, 250012, China , Jinan (China)
  • 2 Shandong University, Brain Science Research Institute, Jinan, Shandong, 250012, China , Jinan (China)
Type
Published Article
Journal
Journal of Human Genetics
Publisher
Springer Nature
Publication Date
Jan 23, 2018
Volume
63
Issue
4
Pages
521–524
Identifiers
DOI: 10.1038/s10038-017-0394-7
Source
Springer Nature
License
Yellow

Abstract

Spinocerebellar ataxias (SCAs) are a group of autosomal dominant, clinically heterogeneous neurodegenerative disorders. SCA18 is a rare autosomal dominant sensory/motor neuropathy with ataxia (OMIM#607458) associated with a single missense variant c.514 A>G in the interferon related developmental regulator 1 (IFRD1) gene previously reported in a five-generation American family of Irish origin. However, to date, there have been no other reports of the IFRD1 mutation to confirm its role in SCA. Here, we report a Han Chinese family with SCA18; the family members presented with a slowly progressing gait ataxia, pyramidal tract signs, and peripheral neuropathy. We identified a missense variant (c.514 A>G, p.I172V) in IFRD1 gene in the family using targeted next-generation sequencing and Sanger direct sequencing with specific primers. Our results suggest that the IFRD1 gene may be the causative allele for SCA18.

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