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

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)1469-1472
Number of pages4
JournalJournal of Genetics
Volume97
Issue number5
DOIs
Publication statusPublished - Dec 1 2018

Fingerprint

Hereditary Spastic Paraplegia
Spastic Paraparesis
Recessive Genes
Mutation
Genes

Keywords

  • hereditary spastic paraplegias
  • next-generation sequencing
  • ZFYVE26 gene

ASJC Scopus subject areas

  • Genetics

Cite this

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title = "Novel c.C2254T (p.Q752*) mutation in ZFYVE26 (SPG15) gene in a patient with hereditary spastic paraparesis",
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.",
keywords = "hereditary spastic paraplegias, next-generation sequencing, ZFYVE26 gene",
author = "Mirella Vinci and Marco Fichera and Musumeci, {Sebastiano Antonino} and Francesco Cali and Vitello, {Girolamo Aurelio}",
year = "2018",
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day = "1",
doi = "10.1007/s12041-018-1038-1",
language = "English",
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pages = "1469--1472",
journal = "Journal of Genetics",
issn = "0022-1333",
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T1 - Novel c.C2254T (p.Q752*) mutation in ZFYVE26 (SPG15) gene in a patient with hereditary spastic paraparesis

AU - Vinci, Mirella

AU - Fichera, Marco

AU - Musumeci, Sebastiano Antonino

AU - Cali, Francesco

AU - Vitello, Girolamo Aurelio

PY - 2018/12/1

Y1 - 2018/12/1

N2 - 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.

AB - 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.

KW - hereditary spastic paraplegias

KW - next-generation sequencing

KW - ZFYVE26 gene

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