ArticleMovement disorders : official journal of the Movement Disorder Society2017
PTRHD1 (C2orf79) mutations lead to autosomal-recessive intellectual disability and parkinsonism.
Article in Movement disorders : official journal of the Movement Disorder Society, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17 citing papers in PubMed, 44 citations in OpenAlex.
- HomozygousThe Yale journal of biology and medicine · 2026Article
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- Early-stage idiopathic Parkinson's disease is associated with reduced circular RNA expression.NPJ Parkinson's disease · 2024Article
- PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability.Brain : a journal of neurology · 2023Article
- The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.Scientific reports · 2022Article
- Monogenic Parkinson's Disease: Genotype, Phenotype, Pathophysiology, and Genetic Testing.Genes · 2022Review
- A Practical Approach to Early-Onset Parkinsonism.Journal of Parkinson's disease · 2022Review
- BiallelicMovement disorders clinical practice · 2021Article
- Analysis of PTRHD1 common and rare variants in European patients with Parkinson's disease.Neurobiology of aging · 2021Article
- Genotype-Phenotype Correlations in Monogenic Parkinson Disease: A Review on Clinical and Molecular Findings.Frontiers in neurology · 2021Review
- Functional Impact of the G279S Substitution in the Adenosine AMolecular pharmacology · 2020Article
- Epigenetics in Lewy Body Diseases: Impact on Gene Expression, Utility as a Biomarker, and Possibilities for Therapy.International journal of molecular sciences · 2020Review
- Phenotypic and genotypic characterization of families with complex intellectual disability identified pathogenic genetic variations in known and novel disease genes.Scientific reports · 2020Article
- A novelNeurology. Genetics · 2019Article
- Genetics of Movement Disorders and the Practicing Clinician; Who and What to Test for?Current neurology and neuroscience reports · 2018Review
- Whole-Exome Sequencing in Searching for New Variants Associated With the Development of Parkinson's Disease.Frontiers in aging neuroscience · 2018Article
- New Genes Causing Hereditary Parkinson's Disease or Parkinsonism.Current neurology and neuroscience reports · 2017Review
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Authors and funding
11 authors at 8 institutions in 2 countries.
Funding
Abstract
introductionAtypical parkinsonism is a neurodegenerative disease that includes diverse neurological and psychiatric manifestations.
objectivesWe aimed to identify the disease-cauisng mutations in a consanguineous family featuring intellectual disability and parkinsonism.
methodsFull phenotypic characterization, followed by genome-wide single-nucleotide polymorphism genotyping and whole-genome sequencing, was carried out in all available family members.
resultsThe chromosome, 2p23.3, was identified as the disease-associated locus, and a homozygous PTRHD1 mutation (c.157C>T) was then established as the disease-causing mutation. The pathogenicity of this PTRHD1 mutation was supported by its segregation with the disease status, its location in a functional domain of the encoding protein, as well as its absence in public databases and ethnicity-matched control chromosomes.
conclusionGiven the role of 2p23 locus in patients with intellectual disability and the previously reported PTRHD1 mutation (c.155G>A) in patients with parkinsonism and cognitive dysfunction, we concluded that the PTRHD1 mutation identified in this study is likely to be responsible for the phenotypic features of the family under consideration. © 2016 International Parkinson and Movement Disorder Society.
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