NEW GENES AND DISEASES / NGS & RELATED TECHNIQUES: P.326 Whole exome sequencing identifies two novel candidate genes and extends the diagnostic spectrum of patients with neuromuscular diseases

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We studied two families by WES (SOLVE-RD-EU project). The first family-of-four consists of two affected male siblings with Hereditary spastic paraplegia (HSP), the second was a family trio including healthy parents and a daughter with progressive ataxia and spastic gait. Prioritization for recessive model identified novel biallelic variations. In the family-of-four, we found biallelic variations in 3 genes: PCLO, SARS2 and PNPT1. PCLO and SARS genes were excluded since respectively unmatched phenotype and unlikely pathogenic nature of the variations.