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A Novel Homozygous Deletion Including Exon 1 of FA2H Gene Causes Spastic Paraplegia-35: Genetic and Lipidomics Analysis of the Patients.

Pediatric neurology - 1 Mar 2024

Mo Lidangzhi, Tie Xiaoling, Che Fengyu, Zhang Liyu, Li Benchang, Wang Guoxia, Yang Ying

Abstract excerpt

BACKGROUND: Fatty acid 2-hydroxylase (FA2H) is encoded by the FA2H gene, with mutations therein leading to the neurodegenerative condition, spastic paraplegia-35 (SPG35). We aim to elucidate the genetic underpinnings of a nonconsanguineous Chinese family diagnosed with SPG35 by examining the clinical manifestations, scrutinizing genetic variants, and establishing the role of FA2H mutation in lipid metabolism....

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Identifiers

PMID: 38306901
DOI: 10.1016/j.pediatrneurol.2023.12.031

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