Hereditary spastic paraplegia associated with a rare IFIH1 mutation: a case report and literature review.

Abstract:

:Here, the pathogenesis of an IFIH1 gene mutation is discussed through the analysis of a sporadic case of hereditary spastic paraplegia. Next-generation sequencing was performed for the patient and his family members to detect mutations at the IFIH1 locus. The patient and his father were found to carry the same heterozygous missense mutation (c.1093A > G; p.Gly495Arg), while the patient's mother does not carry this mutation. This is the first report of this heterozygous IFIH1 mutation and it is predicted to be disease-causing.

journal_name

Hereditas

journal_title

Hereditas

authors

Liu N,Chen J,Xu C,Shi T,Li J

doi

10.1186/s41065-019-0104-x

subject

Has Abstract

pub_date

2019-08-13 00:00:00

pages

28

eissn

0018-0661

issn

1601-5223

pii

104

journal_volume

156

pub_type

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