Prenatal diagnosis of a compound heterozygous variation in the FBXL4 gene by trio-WES and imaging monitoring: a case report

Prenatal diagnosis of a compound heterozygous variation in the FBXL4 gene by trio-WES and imaging monitoring: a case report

F-box and leucine-rich repeat protein 4 (FBXL4) plays a crucial role in mitochondrial bioenergetics, mitochondrial DNA (mtDNA) maintenance, and mitochondrial dynamics. The variations in the FBXL4 gene can give rise to encephalomyopathy mitochondrial DNA depletion syndrome-13 (MTDPS13) characterized...

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Bibliographic Details
Main Authors: Yujia Zhai, Jing Chen, Shuo Yang, He Wang, Yuanyuan Xiao, Shanling Liu
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-04-01
Series:Frontiers in Genetics
Subjects:
prenatal diagnosis
FBXL4
NT thickening
MTDPS13
trio-WES
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2025.1539288/full
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