ArticleMolecular genetics & genomic medicine2020
Perrault syndrome: Clinical report and retrospective analysis.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 29 citations in OpenAlex.
- Comprehensive Insights into Perrault Syndrome: Genetic Diversity and Clinical Implications.Reproductive sciences (Thousand Oaks, Calif.) · 2026Review
- Novel LARS2 variants in patients with Perrault syndrome: expanding the genetic spectrum and phenotypic heterogeneity.Frontiers in genetics · 2026Article
- Perrault syndrome: a forgotten presentation for infertile women.Clinical case reports · 2024Article
- Article
- Exome sequencing reveals pathogenic mutations in the LARS2 and HSD17B4 genes associated with Perrault syndrome and D-bifunctional protein deficiency in Moroccan families.Molecular biology reports · 2024Article
- Article
- Novel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms.BMC medical genomics · 2024Article
- A Homozygous Missense Variant inMolecular syndromology · 2024Article
- Delayed Diagnosis of Perrault Syndrome: A Rare Genetic Disorder.Case reports in medicine · 2024Article
- ClpP/ClpX deficiency impairs mitochondrial functions and mTORC1 signaling during spermatogenesis.Communications biology · 2023Article
- LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss.European journal of human genetics : EJHG · 2023Article
- A likely pathogenic POLD1 variant associated with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome in a Chinese patient.BMC medical genomics · 2022Article
- Review
- Increased diagnostic yield in a cohort of hearing loss families using a comprehensive stepwise strategy of molecular testing.Frontiers in genetics · 2022Article
- A Rare Case of Perrault Syndrome with Auditory Neuropathy Spectrum Disorder: Cochlear Implantation Treatment and Literature Review.Audiology research · 2021Article
- Treacher Collins syndrome: Clinical report and retrospective analysis of Chinese patients.Molecular genetics & genomic medicine · 2021Article
- High Genetic Heterogeneity in Chinese Patients With Waardenburg Syndrome Revealed by Next-Generation Sequencing.Frontiers in genetics · 2021Article
- Genetic and Phenotypic Variability in Chinese Patients With Branchio-Oto-Renal or Branchio-Oto Syndrome.Frontiers in genetics · 2021Article
- Gene4HL: An Integrated Genetic Database for Hearing Loss.Frontiers in genetics · 2021Article
- Perrault syndrome: Clinical report and retrospective analysis.Molecular genetics & genomic medicine · 2020Article
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPerrault syndrome (PRLTS4; OMIM# 615300) is a rare autosomal recessive disorder and only a few cases have been reported worldwide. We report a Chinese female characterized by sensorineural hearing loss and premature ovarian insufficiency.
methodsWe evaluated audiological, endocrine, and ultrasound examinations and examined the genetic causes using whole-exome sequencing. We reviewed the literature to discuss the pathogenesis, genotype-phenotype correlation, treatment, and prevention of PRLTS4.
resultsBioinformatic analysis revealed compound heterozygous mutations in the LARS2 gene, c.880G>A (p.Glu294Lys), and c.2108T>C (p.Ile703Thr) which is a novel missense mutation, co-segregated in this family. Taken together, the patient was clinically diagnosed as PRLTS4. The literature review showed that the phenotype for PRLTS4 varies widely, but the sensorineural hearing loss, increased gonadotropin levels, and amenorrhea occurred frequently. All reported mutations are highly conserved in mammals based on conservation analysis, and there is a mutation hotspot for PRLTS4.
conclusionThis study expanded the mutation spectrum of LARS2 and is the first report of PRLTS4 in a Chinese family. Genetic testing plays an important role in early diagnosis of syndromic deafness and clinical genetic evaluation is essential to guide prevention.
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