Complex Parkinsonism (includes pallido-pyramidal syndromes)Gene: TAF1
Comment on list classification: Is on the Complex Parkinson's Disease/Dystonia NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual. Feedback from Huw Morris (UCL): has only been reported in a population in the Philippines. PMID: 17273961 - Study of 67 Filipino individuals (affected males) from 16 families in Panay. All patients had the disease-specific haplotype between DXS10017 and DXS10018 in the DYT3 region. They report finding a short interspersed nuclear element, variable number of tandem repeats and Alu composite retrotransposon insertion in an intron of TAF1, as well as an abnormal pattern of DNA methylation. A comment on this paper is found here: PMID: 17668393. Expression of this gene seems to be involved in the disorder, however whether loss of function variants within this gene would be causative is not clear. TAF1 variants have been reported to be associated with global developmental delay, intellectual disability (ID), characteristic facial dysmorphology, generalized hypotonia, and variable neurologic features, in male individuals PMID: 26637982.
Created: 10 Jun 2016, 11:35 a.m.
Mode of inheritance for TAF1 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
This gene has been classified as Amber List (Moderate Evidence).
TAF1 was added to Complex Parkinsonism (includes pallido-pyramidal syndromes)panel. Sources: Radboud University Medical Center, Nijmegen