Evidence map›Paper›PMID 39762667›Full record

ArticleNeurogenetics2025

Novel compound heterozygous mutations in the LARS2 gene in a Chinese family with hearing loss.

Mengyi Lu, Kai Zhou, Xiuyun Yang, Lin Lin, Lixiang Lu, Yujie Qin, Ni Zhou, Lingbo Li

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Article in Neurogenetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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2citing papers in PubMed
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1 · What the graph read from it

What it found

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3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Mengyi LuDepartment of Otolaryngology & Head and Neck, Liuzhou Worker's Hospital of Guangxi Zhuang Autonomous Region, 156 Heping Road, Liuzhou, 545007, China.
Kai ZhouDepartment of Otolaryngology & Head and Neck, Liuzhou Worker's Hospital of Guangxi Zhuang Autonomous Region, 156 Heping Road, Liuzhou, 545007, China.
Xiuyun YangDepartment of Otolaryngology & Head and Neck, Liuzhou Worker's Hospital of Guangxi Zhuang Autonomous Region, 156 Heping Road, Liuzhou, 545007, China.
Lin LinDepartment of Otolaryngology & Head and Neck, Liuzhou Worker's Hospital of Guangxi Zhuang Autonomous Region, 156 Heping Road, Liuzhou, 545007, China.
Lixiang LuDepartment of Otolaryngology & Head and Neck, Liuzhou Worker's Hospital of Guangxi Zhuang Autonomous Region, 156 Heping Road, Liuzhou, 545007, China.
Yujie QinDepartment of Otolaryngology & Head and Neck, Liuzhou Worker's Hospital of Guangxi Zhuang Autonomous Region, 156 Heping Road, Liuzhou, 545007, China.
Ni ZhouDepartment of Otolaryngology & Head and Neck, Liuzhou Worker's Hospital of Guangxi Zhuang Autonomous Region, 156 Heping Road, Liuzhou, 545007, China. zhouni770@163.com.
Lingbo LiDepartment of Otolaryngology & Head and Neck, Liuzhou Worker's Hospital of Guangxi Zhuang Autonomous Region, 156 Heping Road, Liuzhou, 545007, China. lilingbo@ldy.edu.rs.

Funding

Partial financial support was received from Guangxi Zhuang Autonomous Region Clinical Key Specialty Construction Project GWYF202217
6 · The paper itself

Abstract

backgroundMutations 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.

methodsWhole-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, audiological data, and color Doppler ultrasound of the family were collected, and a series of computer software were used to analyze the impact of genetic variations on protein structure and function.

resultsNovel compound heterozygous LARS2 variants, c.604G > A and c.703C > T, were linked to hearing loss in the family, the latter of which has not been reported in any public database. The proband and her brother in this family presented with hearing loss, while the parents had normal hearing. Additionally, the c.703C > T mutation is a nonsense mutation, leading to a significant loss of amino acids, while the c.604G > A mutation affects the secondary structure and side-chain structure of the protein.

conclusionThese mutations expand the LARS2 mutation spectrum and provide a basis for the genetic diagnosis of Perrault syndrome and related hearing loss.

Indexed as

Amino Acyl-tRNA SynthetasesGonadal Dysgenesis, 46,XXHearing Loss, SensorineuralAdultChinaDNA Mutational AnalysisEast Asian PeopleExome SequencingFemaleHearing LossHeterozygoteHumansMaleMutationPedigreePhenotypeAmino Acyl-tRNA SynthetasesLARS2 protein, humanLARS2 geneNovel compound heterozygous mutationsPerrault syndromeSensorineural hearing loss

Identifiers

PMID39762667

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.