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Article

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

Neurogenetics - 1 Oct 2016

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

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27679996
DOI: 10.1007/s10048-016-0495-z
PMCID: PMC5061846

Genes

DDHD2
GLB1
PEX16

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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