ArticleNeurology2014
Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features.
Article in Neurology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers.
What it found
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Who cites it
60 citing papers in PubMed, 107 citations in OpenAlex.
- Comprehensive Insights into Perrault Syndrome: Genetic Diversity and Clinical Implications.Reproductive sciences (Thousand Oaks, Calif.) · 2026Review
- Genetic etiology of Perrault syndrome in Iranian families: first report from Iran and literature review.Journal of applied genetics · 2026Review
- Recessive variants in TWNK cause syndromic and non-syndromic post-synaptic auditory neuropathy through MtDNA replication defects.Human genetics · 2025Article
- The First HeterozygousBiomolecules · 2025Article
- Identification of genetic mechanisms of non-isolated auditory neuropathy with various phenotypes in Chinese families.Orphanet journal of rare diseases · 2025Article
- Identification of novel variants and candidate genes in women with 46,XX complete gonadal dysgenesis.Reproductive biology and endocrinology : RB&E · 2024Article
- New insights on mitochondrial heteroplasmy observed in ovarian diseases.Journal of advanced research · 2024Review
- Genetic insights into the complexity of premature ovarian insufficiency.Reproductive biology and endocrinology : RB&E · 2024Review
- Mitochondrial Parkinsonism: A Practical Guide to Genes and Clinical Diagnosis.Movement disorders clinical practice · 2024Review
- Review
- Primary ovarian insufficiency: update on clinical and genetic findings.Frontiers in endocrinology · 2024Review
- Mechanisms of mitochondrial dysfunction in ovarian aging and potential interventions.Frontiers in endocrinology · 2024Review
- Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report.BMC medical genomics · 2023Article
- Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency.Human genetics · 2023Article
- Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights.The Journal of clinical endocrinology and metabolism · 2022Article
- Article
- TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study.Movement disorders : official journal of the Movement Disorder Society · 2022Article
- Review
- How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.Journal of inherited metabolic disease · 2022Review
- New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.Human genetics · 2022Review
Corrections and comments
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Authors and funding
14 authors at 1 institution in 1 country.
Funding
Abstract
objectiveTo identify the genetic cause in 2 families of progressive ataxia, axonal neuropathy, hyporeflexia, and abnormal eye movements, accompanied by progressive hearing loss and ovarian dysgenesis, with a clinical diagnosis of Perrault syndrome.
methodsWhole-exome sequencing was performed to identify causative mutations in the 2 affected sisters in each family. Family 1 is of Japanese ancestry, and family 2 is of European ancestry.
resultsIn family 1, affected individuals were compound heterozygous for chromosome 10 open reading frame 2 (C10orf2) p.Arg391His and p.Asn585Ser. In family 2, affected individuals were compound heterozygous for C10orf2 p.Trp441Gly and p.Val507Ile. C10orf2 encodes Twinkle, a primase-helicase essential for replication of mitochondrial DNA. Conservation and structural modeling support the causality of the mutations. Twinkle is known also to harbor multiple mutations, nearly all missenses, leading to dominant progressive external ophthalmoplegia type 3 and to recessive mitochondrial DNA depletion syndrome 7, also known as infantile-onset spinocerebellar ataxia.
conclusionsOur study identifies Twinkle mutations as a cause of Perrault syndrome accompanied by neurologic features and expands the phenotypic spectrum of recessive disease caused by mutations in Twinkle. The phenotypic heterogeneity of conditions caused by Twinkle mutations and the genetic heterogeneity of Perrault syndrome call for genomic definition of these disorders.
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