Title |
Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing
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Published in |
neurogenetics, September 2016
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DOI | 10.1007/s10048-016-0495-z |
Pubmed ID | |
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 |
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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Demographic breakdown
Readers by professional status | Count | As % |
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Student > Ph. D. Student | 4 | 14% |
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Researcher | 2 | 7% |
Other | 3 | 10% |
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Social Sciences | 1 | 3% |
Other | 1 | 3% |
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