Novel LARS2 variants in patients with Perrault syndrome: expanding the genetic spectrum and phenotypic heterogeneity
Zibin Lin ,Jiale Xiang, Xiangzhong Sun ,Xinyu Shi,Xiaozhou Liu ,Qinming Cai ,Jing Yang ,Nana Song ,Haodong Ye Jiangfan Xu, Jiguang Peng ,Xianghong Ou ,Yu Sun ,Zhiyu Peng
Journal：Frontiers in Genetics
IF：3
DOI：10.3389/fgene.2026.1785502
PMID：41783587
Published：2026-02-18
research field：神经科学分子生物学药物递送纳米医学眼科学
Abstract
Perrault syndrome (PS) is a rare autosomal recessive disorder characterized by sensorineural hearing loss (SNHL) and primary ovarian insufficiency in females. LARS2, encoding mitochondrial leucyl-tRNA synthetase, is the most common causative gene for PS. However, the genetic spectrum and clinical variability of PS remain underexplored. Expanding the catalog of LARS2 variants and correlating them with phenotypic data are critical for delineating genotype-phenotype relationships.
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