Deletional variant of REEP1 gene in a pedigree affected with spastic paraplegia type 31.
10.3760/cma.j.issn.1003-9406.2019.06.012
- Author:
Gang XU
1
;
Yan NIU
1
;
Shujuan CHEN
1
;
Jianbo SHU
2
;
Liheng DANG
2
;
Peng ZHAO
1
;
Chunquan CAI
3
Author Information
1. Department of Rehabilitation, Tianjin Children's Hospital, Tianjin 300400, China. Email: patrickzhao@163.com.
2. Institute of Pediatrics, Tianjin Children's Hospital, Tianjin 300400, China.
3. Department of Neurosurgery, Tianjin Children's Hospital, Tianjin 300400, China.
- Publication Type:Case Reports
- MeSH:
Female;
Humans;
Membrane Transport Proteins;
supply & distribution;
Paraplegia;
Pedigree;
Sequence Deletion;
Spastic Paraplegia, Hereditary;
genetics
- From:
Chinese Journal of Medical Genetics
2019;36(6):581-583
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To detect pathogenic variation in a pedigree affected with hereditary spastic paraplegia type 31 and explore its molecular pathogenesis.
METHODS:Customized Roche NimbleGen capture probes were used to capture all exons of the target genes in relation with hereditary spastic paraplegia. The DNA samples were also assayed with fluorescent quantitative PCR as well as chromosomal microarray analysis using CytoScan HD chip.
RESULTS:The proband and her father and grandfather were found to carry a deletion for position 85 992 693-86 842 693 on chromosome 2, which spanned approximately 900 kb and encompassed the REEP1 gene. The latter has been specifically associated with hereditary spastic paraplegia type 31. The same deletion was not found in her mother who is phenotypically normal.
CONCLUSION:The deletional variation of the REEP1 gene probably underlies the disease in this pedigree.
