Journal
NEUROGENETICS
Volume 17, Issue 4, Pages 265-270Publisher
SPRINGER
DOI: 10.1007/s10048-016-0495-z
Keywords
Hereditary spastic paraplegia; Whole genome sequencing; Metabolic; Gangliosidosis; Zellweger; SPG54; SPG56
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Funding
- Bushell Travelling Fellowship in Medicine or the Allied Sciences (The Royal Australasian College of Physicians Foundation)
- NHMRC Early Career Fellowship
- Douglas Piper Fellowship from the Royal North Shore Hospital Scholarship Program
- Ramsay Research and Teaching Fund Knowledge Discovery Project (Biomedical Research)
- Brain Foundation grant
- NHMRC Practitioner Fellowship [1008433]
- Cancer Institute NSW [13/ECF/1-46]
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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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