Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

• Published in: Clinical epigenetics Vol. 11; no. 1; pp. 64 - 17
• Main Authors: Bend, Eric G., Aref-Eshghi, Erfan, Everman, David B., Rogers, R. Curtis, Cathey, Sara S., Prijoles, Eloise J., Lyons, Michael J., Davis, Heather, Clarkson, Katie, Gripp, Karen W., Li, Dong, Bhoj, Elizabeth, Zackai, Elaine, Mark, Paul, Hakonarson, Hakon, Demmer, Laurie A., Levy, Michael A., Kerkhof, Jennifer, Stuart, Alan, Rodenhiser, David, Friez, Michael J., Stevenson, Roger E., Schwartz, Charles E., Sadikovic, Bekim
• Format: Journal Article
• Language: English
• Published: Germany BioMed Central Ltd 27.04.2019; BioMed Central; BMC
• Subjects: ADNP; ADNP protein; Age; Analysis; Autism; Autism Spectrum Disorder - genetics; Bioinformatics; C-Terminus; Causes of; Child; Child, Preschool; Chromatin; Computational Biology - methods; CpG Islands; Deoxyribonucleic acid; Diagnosis; DNA; DNA Methylation; DNA sequencing; Early Diagnosis; Epigenesis, Genetic; Epigenetic inheritance; Epigenetics; Episignature; Female; Gene expression; Genes; Genetic diversity; Genetics; Genomes; Genomics; Helsmoortel-Van der Aa syndrome; Homeodomain Proteins - genetics; Humans; Intellectual disabilities; Intellectual Disability - genetics; Localization; Male; Medical research; Methylation; Models, Genetic; Mutation; Nerve Tissue Proteins - genetics; Neurodevelopmental Disorders - diagnosis; Neurodevelopmental Disorders - genetics; Neurons; Peripheral blood; Pervasive developmental disorders; Proteins; Reclassification; Autism; Intellectual disability; Disease screening; Episignature; DNA methylation; Epigenetics; Helsmoortel-Van der Aa syndrome; ADNP; Unresolved clinical cases

ADNP syndrome is a rare Mendelian disorder characterized by global developmental delay, intellectual disability, and autism. It is caused by truncating mutations in ADNP, which is involved in chromatin regulation. We hypothesized that the disruption of chromatin regulation might result in specific D...