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Open Access 01-10-2016 | Short Communication

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

Authors: Kishore R Kumar, G.M. Wali, Mahesh Kamate, Gautam Wali, André E Minoche, Clare Puttick, Mark Pinese, Velimir Gayevskiy, Marcel E Dinger, Tony Roscioli, Carolyn M. Sue, Mark J Cowley

Published in: Neurogenetics | Issue 4/2016

Abstract

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.

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Title: Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing
Authors: Kishore R Kumar
G.M. Wali
Mahesh Kamate
Gautam Wali
André E Minoche
Clare Puttick
Mark Pinese
Velimir Gayevskiy
Marcel E Dinger
Tony Roscioli
Carolyn M. Sue
Mark J Cowley
Publication date: 01-10-2016
Publisher: Springer Berlin Heidelberg
Published in: Neurogenetics / Issue 4/2016
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-016-0495-z

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Springer Medicine

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

Abstract

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Abstract

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Acknowledgement to Referees 2015/2016