title: PTRHD1 (C2orf79) mutations lead to autosomal-recessive intellectual disability and parkinsonism.
abstract: Atypical parkinsonism is a neurodegenerative disease that includes diverse neurological and psychiatric manifestations.
  
  
  
  We aimed to identify the disease-cauisng mutations in a consanguineous family featuring intellectual disability and parkinsonism.
  
  
  
  Full phenotypic characterization, followed by genome-wide single-nucleotide polymorphism genotyping and whole-genome sequencing, was carried out in all available family members.
  
  
  
  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.
  
  
  
  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.
authors.affiliation: Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Hamidreza
authors.initials: H
authors.lastname: Khodadadi
authors.affiliation: Department of Neurosciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.|Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
authors.forename: Luis J
authors.initials: LJ
authors.lastname: Azcona
authors.affiliation: Department of Neurology, Roozbeh Psychiatry Hospital, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Vajiheh
authors.initials: V
authors.lastname: Aghamollaii
authors.affiliation: Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Mir Davood
authors.initials: MD
authors.lastname: Omrani
authors.affiliation: Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.
authors.forename: Masoud
authors.initials: M
authors.lastname: Garshasbi
authors.affiliation: Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Shaghayegh
authors.initials: S
authors.lastname: Taghavi
authors.affiliation: Department of Neurology, School of Medicine, Imam Khomeini Hospital and Iranian Center of Neurological Research, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Abbas
authors.initials: A
authors.lastname: Tafakhori
authors.affiliation: Movement Disorders Clinic, Hazrat Rassol Hospital, Iran University of Medical Sciences, Tehran, Iran.
authors.forename: Gholam Ali
authors.initials: GA
authors.lastname: Shahidi
authors.affiliation: Noncommunicable Diseases Research Center, Fasa University of Medical Sciences, Fasa, Iran.
authors.forename: Javad
authors.initials: J
authors.lastname: Jamshidi
authors.affiliation: Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Hossein
authors.initials: H
authors.lastname: Darvish
authors.affiliation: Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.|Department of Psychiatry, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, New York, USA.|Department of Genetics and Genomic sciences, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, New York, USA.|Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, New York, USA.|Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
authors.forename: Coro
authors.initials: C
authors.lastname: Paisán-Ruiz
mesh_terms: D003241:Consanguinity; D005808:Genes, Recessive; D016678:Genome; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007492:Iran; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D024101:Mitochondrial Proteins / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000235:genetics*; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide
chemical_list: C578369:CHCHD5 protein, human; D008565:Membrane Proteins; D024101:Mitochondrial Proteins
keywords: 2p23.3; PTRHD1 mutation; intellectual disability; parkinsonism