Prominent Sensorimotor Neuropathy Due to SACS Mutations Revealed by Whole-Exome Sequencing

作者：Pyle Angela; Griffin Helen; Yu Wai Man Patrick; Duff Jennifer; Eglon Gail; Pickering Brown Stuart; Santibanez Korev Mauro; Horvath Rita; Chinnery Patrick F^*

来源：Archives of Neurology, 2012, 69(10): 1351-1354.

DOI：10.1001/archneurol.2012.1472

Objective: To determine the genetic basis of an unexplained multisystem neurological disorder affecting 2 siblings. %26lt;br%26gt;Design: Case reports and whole-exome DNA sequencing. %26lt;br%26gt;Setting: Neurogenetics clinic, Institute of Genetic Medicine, Newcastle upon Tyne, England. %26lt;br%26gt;Patients: Two adult siblings with a sensorimotor neuropathy, ataxia, and spasticity. %26lt;br%26gt;Main Outcome Measures: Clinical, neurophysiological, imaging, and genetic data. %26lt;br%26gt;Results: Novel compound heterozygous frameshift mutations were detected in the SACS gene of both siblings, predicted to drastically truncate the sacsin protein. %26lt;br%26gt;Conclusions: Whole-exome sequencing rapidly defined the genetic cause of the disorder, expanding the clinical phenotype associated with SACS mutations to include a severe sensorimotor neuropathy. Arch Neurol. 2012;69(10):1351-1354. Published online July 2, 2012. doi:10.1001/archneurol.2012.1472

• 出版日期2012-10
• 单位河北医科大学