Linking genes to clinical presentation
Linking REEP1 gene mutations with clinical presentation from 2 members of the same family, researchers found genetic heterogeneity (diversity) rather than similarity – a finding which has been reported across other HSP genes.
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 individuals 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 (c) 2008 Wiley-Liss, Inc.
SOURCE: Synapse. 2009 Mar;63(3):201-5.
Clinical and genetic study of a novel mutation in the REEP1 gene.
Liu SG, Che FY, Heng XY, Li FF, Huang SZ, Lu de G, Hou SJ, Liu SE, Wang Q, Wang HP, Ma X.
Postgraduate School, Peking Union Medical College, Dong Cheng, Beijing.