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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.

SUBMITTER: Khodadadi H 

PROVIDER: S-EPMC5318269 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature

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PTRHD1 (C2orf79) mutations lead to autosomal-recessive intellectual disability and parkinsonism.

Khodadadi Hamidreza H   Azcona Luis J LJ   Aghamollaii Vajiheh V   Omrani Mir Davood MD   Garshasbi Masoud M   Taghavi Shaghayegh S   Tafakhori Abbas A   Shahidi Gholam Ali GA   Jamshidi Javad J   Darvish Hossein H   Paisán-Ruiz Coro C  

Movement disorders : official journal of the Movement Disorder Society 20161018 2

<h4>Introduction</h4>Atypical parkinsonism is a neurodegenerative disease that includes diverse neurological and psychiatric manifestations.<h4>Objectives</h4>We aimed to identify the disease-cauisng mutations in a consanguineous family featuring intellectual disability and parkinsonism.<h4>Methods</h4>Full phenotypic characterization, followed by genome-wide single-nucleotide polymorphism genotyping and whole-genome sequencing, was carried out in all available family members.<h4>Results</h4>The  ...[more]

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