Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability

• Published in: Journal of medical genetics Vol. 48; no. 1; pp. 48 - 54
• Main Authors: Pagnamenta, Alistair T, Khan, Hameed, Walker, Susan, Gerrelli, Dianne, Wing, Kirsty, Bonaglia, Maria Clara, Giorda, Roberto, Berney, Tom, Mani, Elisa, Molteni, Massimo, Pinto, Dalila, Le Couteur, Ann, Hallmayer, Joachim, Sutcliffe, James S, Szatmari, Peter, Paterson, Andrew D, Scherer, Stephen W, Vieland, Veronica J, Monaco, Anthony P
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01.01.2011; BMJ Publishing Group; BMJ Publishing Group LTD; BMJ Group
• Subjects: Adolescent; Autism; autistic; Autistic Disorder - genetics; Base Sequence; Behavior; Biological and medical sciences; Cadherins - genetics; Cadherins - metabolism; CDH8; Child; Child clinical studies; Chromosome Deletion; Chromosomes, Human, Pair 16 - genetics; Classical genetics, quantitative genetics, hybrids; CNV; Communication; Developmental disorders; Disability; DNA Copy Number Variations - genetics; DNA Mutational Analysis; Epilepsy; Family; Female; Fundamental and applied biological sciences. Psychology; Gene Expression Regulation; Gene loci; General aspects. Genetic counseling; Genetic Linkage; Genetic Predisposition to Disease; Genetics of eukaryotes. Biological and molecular evolution; Genome, Human - genetics; Genomes; Human; Humans; in situ; Infantile autism; Intelligence Tests; Internet; Learning disabilities; Learning Disabilities - genetics; Male; Medical genetics; Medical sciences; Mental disorders; Molecular and cellular biology; molecular genetics; Molecular Sequence Data; neurology; Original; Pedigree; Psychology. Psychoanalysis. Psychiatry; Psychopathology. Psychiatry; synapse; Young Adult; United States > US; California; Genetic mapping; Human; Microdeletion; Nervous system diseases; Family study; Pathogenesis; Cell adhesion molecule; Developmental disorder; Cadherin; Genetic determinism; Autism; Learning disability; Genetic linkage; Predisposition; Genetics; Peak; Neurological disorder; Molecular genetics; Neurology

BackgroundAutism spectrum disorder (ASD) is characterised by impairments in social communication and by a pattern of repetitive behaviours, with learning disability (LD) typically seen in up to 70% of cases. A recent study using the PPL statistical framework identified a novel region of genetic link...