New genes and diseases / ngs & related techniques

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.

Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: R. Rossi, M. Falzarano, M. Pinotti, D. Balestra, M. Neri, F. Fortunato, E. Mercuri, M. Pane, F. Gualandi, R. Selvatici, A. Ferlini Source Type: research