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

被引:0
|
作者
Pengfei Lin
Dong Zhang
Guangrun Xu
Chuanzhu Yan
机构
[1] Shandong University,Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital
[2] Shandong University,Brain Science Research Institute
来源
Journal of Human Genetics | 2018年 / 63卷
关键词
D O I
暂无
中图分类号
学科分类号
摘要
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.
引用
收藏
页码:521 / 524
页数:3
相关论文
共 50 条
  • [41] Autosomal dominant hereditary spastic paraplegia: report of a large italian family with R581X spastin mutation
    P. Aridon
    P. Ragonese
    M. De Fusco
    D. Lo Coco
    G. Salemi
    G. Casari
    G. Savettieri
    Neurological Sciences, 2007, 28 : 171 - 174
  • [42] Autosomal dominant hereditary spastic paraplegia: report of a large italian family with R581X spastin mutation
    Aridon, P.
    Ragonese, P.
    De Fusco, M.
    Lo Coco, D.
    Salemi, G.
    Casari, G.
    Savettieri, G.
    NEUROLOGICAL SCIENCES, 2007, 28 (04) : 171 - 174
  • [43] Complicated Hereditary Spastic Paraplegia Caused by SERAC1 Variants in a Chinese Family
    Yan, Dandan
    Chen, Shaopei
    Cai, Fengying
    Shu, Jianbo
    Zhi, Xiufang
    Zheng, Jie
    Zhang, Chunhua
    Li, Dong
    Cai, Chunquan
    FRONTIERS IN PEDIATRICS, 2022, 9
  • [44] Autosomal dominant hereditary spastic paraplegia:: Novel mutations in the REEP1 gene (SPG31)
    Schlang, Katharina J.
    Arning, Larissa
    Epplen, Joerg T.
    Stemmler, Susanne
    BMC MEDICAL GENETICS, 2008, 9
  • [45] Autosomal dominant spinocerebellar ataxias (SCAs) resembling hereditary spastic paraplegia: Also consider SCA1
    Pedroso, J. L.
    Souza, P. V.
    Pinto, W. B. V. R.
    Saraiva-Pereira, M. L.
    Jardim, L. B.
    Barsottini, O.
    MOVEMENT DISORDERS, 2014, 29 : S481 - S482
  • [46] NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6).
    Rainier, S
    Chai, JH
    Tokarz, D
    Nicholls, RD
    Fink, JK
    AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (05) : 191 - 191
  • [47] NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6)
    Rainier, S
    Chai, JH
    Tokarz, D
    Nicholls, RD
    Fink, JK
    AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (04) : 967 - 971
  • [48] Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG42) caused by SLC33A1 mutation in a Chinese kindred
    Lin, Pengfei
    Mao, Fei
    Liu, Qiji
    Shao, Changshun
    Yan, Chuanzhu
    Gong, Yaoqin
    PRENATAL DIAGNOSIS, 2010, 30 (05) : 485 - 486
  • [49] Expanding SPG18 clinical spectrum: autosomal dominant mutation causes complicated hereditary spastic paraplegia in a large family
    Trinchillo, Assunta
    Valente, Valeria
    Esposito, Marcello
    Migliaccio, Miriana
    Iovino, Aniello
    Picciocchi, Michele
    Cuomo, Nunzia
    Caccavale, Carmela
    Nocerino, Cristofaro
    De Rosa, Laura
    Salvatore, Elena
    Pierantoni, Giovanna Maria
    Menchise, Valeria
    Paladino, Simona
    Criscuolo, Chiara
    NEUROLOGICAL SCIENCES, 2024, 45 (09) : 4373 - 4381
  • [50] Identification of a novel mutation in the CACNA1C gene in a Chinese family with autosomal dominant cerebellar ataxia
    Chen, Jiajun
    Sun, Yajuan
    Liu, Xiaoyang
    Li, Jia
    BMC NEUROLOGY, 2019, 19 (1)