Novel c.C2254T (p.Q752*) mutation in ZFYVE26 (SPG15) gene in a patient with hereditary spastic paraparesis
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Hereditary spastic paraplegias are clinically and genetically heterogeneous degenerative disorders, and pathological variants in the autosomal recessive ZFYVE26 gene are considered as very rare causes. We describe a novel mutation in ZFYVE26 gene found in a patient with autosomal recessive spastic paraplegias. The use of a ‘target-gene’ approach allowed us to expand the clinical spectrum associated with hereditary spastic paraplegias.
KeywordsZFYVE26 gene hereditary spastic paraplegias next-generation sequencing
Special acknowledgements for this paper are due to Mrs Eleonora Di Fatta for her valuable assistance in the translation, preparation and formatting of the text. This work was partially supported by the Italian Ministry of Health – Ricerca Corrente 2017 - and ‘5 per mille’ funding.
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