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

Journal of genetics

MARCO FICHERA^1,2¹  MIRELLA VINCI^1² 

[1] Department of Biomedical and Biotechnological Sciences, Medical Genetics, University of Catania, Catania 95100, Italy^2;Oasi Research Institute-IRCCS, Troina 94018, Italy^1

关键词: ZFYVE26 gene;    hereditary spastic paraplegias;    next-generation sequencing.;   

DOI  :  

学科分类：生物科学（综合）

来源: Indian Academy of Sciences

【 摘 要 】

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.

【 授权许可】

CC BY