Session Information
Date: Monday, October 8, 2018
Session Title: Parkinson's Disease: Genetics
Session Time: 1:15pm-2:45pm
Location: Hall 3FG
Objective: To investigate the clinical features and identify the disease-causing gene in a black South African family affected by juvenile-onset parkinsonism and intellectual disability.
Background: The genetic bases of Parkinson’s disease (PD) in Sub-Saharan African (SSA) populations are poorly characterized, and analysis of SSA families might lead to the discovery of novel disease genes associated with PD.
Methods: Clinical evaluation, neuroimaging studies, homozygosity mapping, whole-exome sequencing analysis, and Sanger sequencing of selected candidate variants.
Results: Identification of a homozygous 28-nucleotides frameshift deletion in PTRHD1 coding region that segregates with disease in the affected family and reached significant two-point LOD score. PTRHD1 was recently nominated as the disease-causing gene in two Iranian families with a similar phenotype, who carry homozygous missense mutations.
Conclusions: Here, by genome-wide unbiased methods, we provide conclusive evidence that loss-of-function mutations in PTRHD1 cause a novel monogenic form of autosomal recessive juvenile parkinsonism and intellectual disability.
To cite this abstract in AMA style:
IJcken, M. van Slegtenhorst, V. Bonifati. PTRHD1 loss-of-function mutation in an African family with parkinsonism and intellectual disability [abstract]. Mov Disord. 2018; 33 (suppl 2). https://www.mdsabstracts.org/abstract/ptrhd1-loss-of-function-mutation-in-an-african-family-with-parkinsonism-and-intellectual-disability/. Accessed October 6, 2024.« Back to 2018 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/ptrhd1-loss-of-function-mutation-in-an-african-family-with-parkinsonism-and-intellectual-disability/