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

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 doma

SUBMITTER: Khodadadi H 

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

REPOSITORIES: biostudies-literature