PubAg

Main content area

Novel c.C2254T (p.Q752*) mutation in ZFYVE26 (SPG15) gene in a patient with hereditary spastic paraparesis

Author:
Vinci, Mirella, Fichera, Marco, Musumeci, Sebastiano Antonino, Cali, Francesco, Vitello, Girolamo Aurelio
Source:
Journal of genetics 2018 v.97 no.5 pp. 1469-1472
ISSN:
0022-1333
Subject:
genes, mutation, patients
Abstract:
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.
Agid:
6261895