ArticleEuropean journal of human genetics : EJHG2014
Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship.
Article in European journal of human genetics : EJHG, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 43 citations in OpenAlex.
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- Molecular pathways in mitochondrial disorders due to a defective mitochondrial protein synthesis.Frontiers in cell and developmental biology · 2024Review
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- Maintaining mitochondrial ribosome function: The role of ribosome rescue and recycling factors.RNA biology · 2022Review
- Mitochondrial Protein Translation: Emerging Roles and Clinical Significance in Disease.Frontiers in cell and developmental biology · 2021Review
- Elongational stalling activates mitoribosome-associated quality control.Science (New York, N.Y.) · 2020Article
- Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review.Genetics and molecular biology · 2020Article
- Integrated Analysis of Summary Statistics to Identify Pleiotropic Genes and Pathways for the Comorbidity of Schizophrenia and Cardiometabolic Disease.Frontiers in psychiatry · 2020Article
- [Clinical features and C12orf65 mutations of autosomal recessive spastic paraplegia-55: a case report].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2019Article
- Cerebral imaging in paediatric mitochondrial disorders.The neuroradiology journal · 2018Review
- Mitochondrial DNA transcription and translation: clinical syndromes.Essays in biochemistry · 2018Review
- Autopsy case of theNeurology. Genetics · 2017Article
- Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.Cerebellum (London, England) · 2017Review
- Compound Heterozygote Mutation ofChinese medical journal · 2017Article
- ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.Brain : a journal of neurology · 2016Article
- LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.Brain : a journal of neurology · 2015Article
- Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease.Journal of neuromuscular diseases · 2015Article
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13 authors at 4 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
C12orf65 participates in the process of mitochondrial translation and has been shown to be associated with a spectrum of phenotypes, including early onset optic atrophy, progressive encephalomyopathy, peripheral neuropathy, and spastic paraparesis.We used whole-genome homozygosity mapping as well as exome sequencing and targeted gene sequencing to identify novel C12orf65 disease-causing mutations in seven affected individuals originating from two consanguineous families. In four family members affected with childhood-onset optic atrophy accompanied by slowly progressive peripheral neuropathy and spastic paraparesis, we identified a homozygous frame shift mutation c.413_417 delAACAA, which predicts a truncated protein lacking the C-terminal portion. In the second family, we studied three affected individuals who presented with early onset optic atrophy, peripheral neuropathy, and spastic gait in addition to moderate intellectual disability. Muscle biopsy in two of the patients revealed decreased activities of the mitochondrial respiratory chain complexes I and IV. In these patients, we identified a homozygous splice mutation, g.21043 T>A (c.282+2 T>A) which leads to skipping of exon 2. Our study broadens the phenotypic spectrum of C12orf65 defects and highlights the triad of optic atrophy, axonal neuropathy and spastic paraparesis as its key clinical features. In addition, a clear genotype-phenotype correlation is anticipated in which deleterious mutations which disrupt the GGQ-containing domain in the first coding exon are expected to result in a more severe phenotype, whereas down-stream C-terminal mutations may result in a more favorable phenotype, typically lacking cognitive impairment.
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