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Updated: Jun 27, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Clinical and genetic study of a novel mutation in the REEP1 gene
Shi Guo Liu1, Feng Yuan Che, Xue Yuan Heng
1Postgraduate School, Peking Union Medical College, Dong Cheng, Beijing.
Objective:
To examine the gene mutation associated with clinical phenotype from a Chinese kindred with autosomal dominant hereditary spastic paraplegia (ADHSP).
Method:
To perform linkage analysis and mutation detection. For two affected individual of the family, clinical analysis, electrophysiological examination, and MRI of brain and spinal cord were also performed.
Result:
A novel splice-site mutation (REEP1 c417+1g>a) was identified. Central motor conduction time to the first metatarsal interosseus and anterior tibial muscles were clearly prolonged. Thoracic cord atrophy was found from T1 to T10.
Conclusion:
Our study supports that mutations in REEP1 cause ADHSP and demonstrates genetic heterogeneity in ADHSP. Synapse
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