A novel PUS7 mutation causes intellectual disability with autistic and aggressive behaviors

Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation

Mid-hindbrain malformations can occur during embryogenesis through a disturbance of transient and localized gene expression patterns within these distinct brain structures. Rho guanine nucleotide exchange factor (ARHGEF) family members are key for controlling the spatiotemporal activation of Rho GTPase, to modulate cytoskeleton dynamics, cell division, and cell migration. We identified, by mean...

Case Report: Association of Waardenburg Syndrome with Intellectual Disability, Autistic Spectrum Disorder and Unprovoked Aggressive Outbursts: a New Behavioural Phenotype?

*Reza Kiani, MD, MRCPsych Specialist Registrar/Honorary Lecturer in Psychiatry of Learning Disability, and Honorary Specialist Registrar, National Deaf Services. Leicester Frith Hospital, Leicester, UK Tel: 0116 225 5273 Fax: 0116 225 5272 email: [email protected] Satheesh Kumar Gangadharan, MD, MRCPsych Consultant in Psychiatry of Learning Disability, Leicester Frith Hospital, Leicester, UK T...

Treatment interventions for people with aggressive behaviour and intellectual disability

Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability

Recently, exome sequencing has extended our knowledge of genetic causes of developmental delay through identification of de novo, germline mutations in the guanine nucleotide-binding protein, beta 1 (GNB1) in 13 patients with neurodevelopmental disability and a wide range of additional symptoms and signs including hypotonia in 11 and seizures in 10 of the patients. Limb/arm dystonia was found i...

Altered Gene-Regulatory Function of KDM5C by a Novel Mutation Associated With Autism and Intellectual Disability

1 Department of Human Genetics, University of Michigan, Ann Arbor, MI, United States, 2 Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, SC, United States, 3 Molecular & Behavioral Neuroscience Institute, University of Michigan, Ann Arbor, MI, United States, 4 Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, United States, 5 Department o...