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Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing


We performed whole genome sequencing (WGS) in nine families from India with early-onset hereditary spastic paraplegia (HSP). We obtained a genetic diagnosis in 4/9 (44 %) families within known HSP genes (DDHD2 and CYP2U1), as well as perixosomal biogenesis disorders (PEX16) and GM1 gangliosidosis (GLB1). In the remaining patients, no candidate structural variants, copy number variants or predicted splice variants affecting an extended candidate gene list were identified. Our findings demonstrate the efficacy of using WGS for diagnosing early-onset HSP, particularly in consanguineous families (4/6 diagnosed), highlighting that two of the diagnoses would not have been made using a targeted approach.

Type Journal
Authors Kumar, K. R.; Wali, G. M.; Kamate, M.; Wali, G.; Minoche, A. E.; Puttick, C.; Pinese, M.; Gayevskiy, V.; Dinger, M. E.; Roscioli, T.; Sue, C. M.; Cowley, M. J.;
Published Date 2016-10-01
Published Volume 17
Published Issue 4
Published Pages 265-270
Status Published in-print
URL link to publisher's version
OpenAccess link to author's accepted manuscript version