Article
Novel compound heterozygous mutations in the LARS2 gene in a Chinese family with hearing loss.
Neurogenetics - 7 Jan 2025
Lu Mengyi, Zhou Kai, Yang Xiuyun, Lin Lin, Lu Lixiang, Qin Yujie, Zhou Ni, Li Lingbo
Abstract excerpt
BACKGROUND: Mutations in the LARS2 gene are correlated with Perrault syndrome, a rare autosomal recessive genetic disorder, that is typically characterized by sensorineural hearing loss and ovarian insufficiency. METHODS: Whole-exome sequencing and mutational analysis were employed to identify hearing loss-causing genes in a Chinese family from the Guangxi Zhuang Autonomous Region. Clinical phenotypes,...
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