Benjamin I Laufer1, Joachim Kapalanga2, Christina A Castellani1, Eric J Diehl1, Liying Yan3, Shiva M Singh1,2,4. 1. Molecular Genetics Unit, Department of Biology, The University of Western Ontario, London, ON, N6A 5B7, Canada. 2. Department of Pediatrics, The University of Western Ontario, London, ON, Canada. 3. EpigenDx Inc., Hopkinton, MA 01748, USA. 4. Program in Neuroscience, The University of Western Ontario, London, ON, Canada.
Abstract
AIM: Prenatal alcohol exposure (PAE) can cause fetal alcohol spectrum disorders (FASD). Previously, we assessed PAE in brain tissue from mouse models, however whether these changes are present in humans remains unknown. MATERIALS & METHODS: In this report, we show some identical changes in DNA methylation in the buccal swabs of six children with FASD using the 450K array. RESULTS: The changes occur in genes related to protocadherins, glutamatergic synapses, and hippo signaling. The results were found to be similar in another heterogeneous replication group of six FASD children. CONCLUSION: The replicated results suggest that children born with FASD have unique DNA methylation defects that can be influenced by sex and medication exposure. Ultimately, with future clinical development, assessment of DNA methylation from buccal swabs can provide a novel strategy for the diagnosis of FASD.
AIM: Prenatal alcohol exposure (PAE) can cause fetal alcohol spectrum disorders (FASD). Previously, we assessed PAE in brain tissue from mouse models, however whether these changes are present in humans remains unknown. MATERIALS & METHODS: In this report, we show some identical changes in DNA methylation in the buccal swabs of six children with FASD using the 450K array. RESULTS: The changes occur in genes related to protocadherins, glutamatergic synapses, and hippo signaling. The results were found to be similar in another heterogeneous replication group of six FASDchildren. CONCLUSION: The replicated results suggest that children born with FASD have unique DNA methylation defects that can be influenced by sex and medication exposure. Ultimately, with future clinical development, assessment of DNA methylation from buccal swabs can provide a novel strategy for the diagnosis of FASD.
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