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neurogenetics

, Volume 17, Issue 4, pp 265–270

First Online: 28 September 2016Received: 04 July 2016Accepted: 12 September 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.

KeywordsHereditary spastic paraplegia Whole genome sequencing Metabolic Gangliosidosis Zellweger SPG54 SPG56 Kishore R Kumar, G.M. Wali, Mahesh Kamate, Tony Roscioli, Carolyn M. Sue and Mark J Cowley contributed equally to this work.

Electronic supplementary materialThe online version of this article doi:10.1007-s10048-016-0495-z contains supplementary material, which is available to authorized users.

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Author: Kishore R Kumar - G.M. Wali - Mahesh Kamate - Gautam Wali - André E Minoche - Clare Puttick - Mark Pinese - Velimir Gay

Source: https://link.springer.com/article/10.1007/s10048-016-0495-z



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