Ptrhd1 (C2orf79) Mutations Lead to Autosomal-Recessive Intellectual Disability and Parkinsonism

Ptrhd1 (C2orf79) Mutations Lead to Autosomal-Recessive Intellectual Disability and Parkinsonism Publisher Pubmed

Khodadadi H¹ ; Azcona LJ^{2, 3} ; Aghamollaii V⁴ ; Omrani MD¹ ; Garshasbi M⁵ ; Taghavi S¹ ; Tafakhori A⁶ ; Shahidi GA⁷ ; Jamshidi J⁸ ; Darvish H¹ ; Paisanruiz C^{3, 9, 10, 11, 12}

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1. Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
2. Department of Neurosciences, Icahn School of Medicine at Mount Sinai, New York, NY, United States
3. Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, United States
4. Department of Neurology, Roozbeh Psychiatry Hospital, Tehran University of Medical Sciences, Tehran, Iran
5. Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran
6. Department of Neurology, School of Medicine, Imam Khomeini Hospital and Iranian Center of Neurological Research, Tehran University of Medical Sciences, Tehran, Iran
7. Movement Disorders Clinic, Hazrat Rassol Hospital, Iran University of Medical Sciences, Tehran, Iran
8. Noncommunicable Diseases Research Center, Fasa University of Medical Sciences, Fasa, Iran
9. Department of Psychiatry, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, United States
10. Department of Genetics and Genomic sciences, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, United States
11. Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, United States
12. Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, United States

Source: Movement Disorders Published:2017

Abstract

Introduction: Atypical parkinsonism is a neurodegenerative disease that includes diverse neurological and psychiatric manifestations. Objectives: We aimed to identify the disease-cauisng mutations in a consanguineous family featuring intellectual disability and parkinsonism. Methods: Full phenotypic characterization, followed by genome-wide single-nucleotide polymorphism genotyping and whole-genome sequencing, was carried out in all available family members. Results: The 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. Conclusion: Given 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. © 2016 International Parkinson and Movement Disorder Society

2. Identification of a Large Dnajb2 Deletion in a Family With Spinal Muscular Atrophy and Parkinsonism, Human Mutation (2016)

3. Phenotypic and Genotypic Characterization of Families With Complex Intellectual Disability Identified Pathogenic Genetic Variations in Known and Novel Disease Genes, Scientific Reports (2020)

4. Anxa1 With Anti-Inflammatory Properties Might Contribute to Parkinsonism, Annals of Neurology (2021)

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Abbas Tafakhori (4)

Style	Citing Format
MLA	Khodadadi H, et al.. "Ptrhd1 (C2orf79) Mutations Lead to Autosomal-Recessive Intellectual Disability and Parkinsonism." Movement Disorders, vol. 32, no. 2, 2017, pp. 287-291.
APA	Khodadadi H, Azcona LJ, Aghamollaii V, Omrani MD, Garshasbi M, Taghavi S, Tafakhori A, Shahidi GA, Jamshidi J, Darvish H, Paisanruiz C (2017). Ptrhd1 (C2orf79) Mutations Lead to Autosomal-Recessive Intellectual Disability and Parkinsonism. Movement Disorders, 32(2), 287-291.
Chicago	Khodadadi H, Azcona LJ, Aghamollaii V, Omrani MD, Garshasbi M, Taghavi S, Tafakhori A, et al.. "Ptrhd1 (C2orf79) Mutations Lead to Autosomal-Recessive Intellectual Disability and Parkinsonism." Movement Disorders 32, no. 2 (2017): 287-291.
Harvard	Khodadadi H et al. (2017) 'Ptrhd1 (C2orf79) Mutations Lead to Autosomal-Recessive Intellectual Disability and Parkinsonism', Movement Disorders, 32(2), pp. 287-291.
Vancouver	Khodadadi H, Azcona LJ, Aghamollaii V, Omrani MD, Garshasbi M, Taghavi S, et al.. Ptrhd1 (C2orf79) Mutations Lead to Autosomal-Recessive Intellectual Disability and Parkinsonism. Movement Disorders. 2017;32(2):287-291.
BibTex	@article{ author = {Khodadadi H and Azcona LJ and Aghamollaii V and Omrani MD and Garshasbi M and Taghavi S and Tafakhori A and Shahidi GA and Jamshidi J and Darvish H and Paisanruiz C}, title = {Ptrhd1 (C2orf79) Mutations Lead to Autosomal-Recessive Intellectual Disability and Parkinsonism}, journal = {Movement Disorders}, volume = {32}, number = {2}, pages = {287-291}, year = {2017} }
RIS	TY - JOUR AU - Khodadadi H AU - Azcona LJ AU - Aghamollaii V AU - Omrani MD AU - Garshasbi M AU - Taghavi S AU - Tafakhori A AU - Shahidi GA AU - Jamshidi J AU - Darvish H AU - Paisanruiz C TI - Ptrhd1 (C2orf79) Mutations Lead to Autosomal-Recessive Intellectual Disability and Parkinsonism JO - Movement Disorders VL - 32 IS - 2 SP - 287 EP - 291 PY - 2017 ER -

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