ArticleJournal of neurology2014
Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation.
Article in Journal of neurology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 46 citations in OpenAlex.
- Prenatal Counseling and Diagnosis of COX20 Gene-Related Mitochondrial Complex IV Deficiency: A Case Report and Literature Review.International journal of women's health · 2025Article
- Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum.Journal of neurology · 2024Article
- Clinical and genetic characteristics of children with COX20-associated mitochondrial disorder: case report and literature review.BMC medical genomics · 2023Review
- Whole-exome identifies germline variants in families with obstructive sleep apnea syndrome.Frontiers in genetics · 2023Article
- Compound HeterozygousFrontiers in neurology · 2022Article
- Tackling Dysfunction of Mitochondrial Bioenergetics in the Brain.International journal of molecular sciences · 2021Review
- Bioinformatic analysis of membrane and associated proteins in murine cardiomyocytes and human myocardium.Scientific data · 2020Article
- Human Mitochondrial Pathologies of the Respiratory Chain and ATP Synthase: Contributions from Studies ofLife (Basel, Switzerland) · 2020Review
- Blackout in the powerhouse: clinical phenotypes associated with defects in the assembly of OXPHOS complexes and the mitoribosome.The Biochemical journal · 2020Review
- Expanding the genotype-phenotype correlation of childhood sensory polyneuropathy of genetic origin.Scientific reports · 2020Article
- The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force.Cerebellum (London, England) · 2019Review
- Observation of novel COX20 mutations related to autosomal recessive axonal neuropathy and static encephalopathy.Human genetics · 2019Article
- Novel pathogenicAnnals of clinical and translational neurology · 2019Article
- Human diseases associated with defects in assembly of OXPHOS complexes.Essays in biochemistry · 2018Review
- Movement disorders in mitochondrial disease.Journal of neurology · 2018Review
- Building the CuThe Journal of biological chemistry · 2018Review
- The mitochondrial TMEM177 associates with COX20 during COX2 biogenesis.Biochimica et biophysica acta. Molecular cell research · 2018Article
- Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions.Human genetics · 2017Article
- Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.Human genetics · 2017Article
- Mitochondrial multiorgan disorder syndrome score generated from definite mitochondrial disorders.Neuropsychiatric disease and treatment · 2017Article
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Authors and funding
19 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
DYTCA is a syndrome that is characterized by predominant dystonia and mild cerebellar ataxia. We examined two affected siblings with healthy, consanguineous, Turkish parents. Both patients presented with a combination of childhood-onset cerebellar ataxia, dystonia, and sensory axonal neuropathy. In the brother, dystonic features were most pronounced in the legs, while his sister developed torticollis. Routine diagnostic investigations excluded known genetic causes. Biochemical analyses revealed a mitochondrial respiratory chain complex IV and a coenzyme Q10 deficiency in a muscle biopsy. By exome sequencing, we identified a homozygous missense mutation (c.154A >C; p.Thr52Pro) in both patients in exon 2 of the COX20 (FAM36A) gene, which encodes a complex IV assembly factor. This variant was confirmed by Sanger sequencing, was heterozygous in both parents, and was absent from 427 healthy controls. The exact same mutation was recently reported in a patient with ataxia and muscle hypotonia. Among 128 early-onset dystonia and/or ataxia patients, we did not detect any other patient with a COX20 mutation. cDNA sequencing and semi-quantitative analysis were performed in fibroblasts from one of our homozygous mutation carriers and six controls. In addition to the exchange of an amino acid, the mutation led to a shift in splicing. In conclusion, we extend the phenotypic spectrum of a recently identified mutation in COX20 to a recessively inherited, early-onset dystonia-ataxia syndrome that is characterized by reduced complex IV activity. Further, we confirm a pathogenic role of this mutation in cerebellar ataxia, but this mutation seems to be a rather rare cause.
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