A de novo splice site mutation in EHMT1 resulting in Kleefstra syndrome with pharmacogenomics screening and behavior therapy for regressive behaviors

Keyphrases

• Behavior Therapy 100%
• Pharmacogenetic Testing 100%
• Histone Methyltransferase 100%
• Splicing mutation 100%
• Kleefstra Syndrome 100%
• Pharmacogenomics 60%
• Exome Sequencing 40%
• Aberrations 40%
• Gene Expression 20%
• Older Adults 20%
• Regulatory Genes 20%
• Treatment Strategy 20%
• Developmental Disabilities 20%
• Exon Skipping 20%
• Epigenetic Regulators 20%
• Autism 20%
• Genetic Background 20%
• Genetic Variants 20%
• Therapeutic Intervention 20%
• Clinical Decision-making 20%
• Fluvoxamine 20%
• Splice Variant 20%
• Gene Variants 20%
• Next-generation Sequencing 20%
• Autosomal Dominant 20%
• Downstream Effects 20%
• Nonfunctioning 20%
• Individualized Approach 20%
• Decreased Expression 20%
• Drug Metabolism 20%
• Metabolic Activity 20%
• Frameshift 20%
• Microdeletion 20%
• Variant Genotypes 20%
• Cytochrome P450 2D6 (CYP2D6) 20%
• Information Therapy 20%
• Genotype 4 20%
• Intragenic mutation 20%
• High-throughput RNA Sequencing 20%
• Autism Risk 20%
• Genotyping Panel 20%
• Early Autism Diagnosis 20%

Biochemistry, Genetics and Molecular Biology

• Pharmacogenomics 100%
• Splice Site Mutation 100%
• Pharmacogenetic Testing 100%
• Methyltransferase 100%
• Histone 100%
• Lysine 100%
• Genetics 66%
• Genotyping 66%
• Exome Sequencing 66%
• Genetic Divergence 33%
• Epigenetics 33%
• Candidate Gene 33%
• Locus Control Region 33%
• Next Generation Sequencing 33%
• Drug Metabolism 33%
• Gene Expression 33%
• Exon Skipping 33%
• Genetic Background 33%
• Autosomal Dominant Inheritance 33%
• Clinical Decision Making 33%
• Fluvoxamine 33%
• CYP2D6 33%
• Deep Sequencing 33%