NeuroGenetics
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Epigenetics & Methylation in Neurological Disease
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Question 1
A child with intellectual disability and overgrowth is found to have a pathogenic variant in DNMT3A. The mechanism of disease in this condition (Tatton-Brown-Rahman syndrome) involves disruption of:
A
Histone acetylation at active gene promoters during neural development
B
De novo DNA methylation — DNMT3A establishes methylation patterns during embryogenesis
C
Maintenance methylation during DNA replication by the DNMT1 enzyme
D
Active demethylation by TET enzyme oxidation of 5-methylcytosine
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