Association between Microdeletion and Microduplication at 16p11.2 and Autism

• Published in: The New England journal of medicine Vol. 358; no. 7; pp. 667 - 675
• Main Authors: Weiss, Lauren A, Shen, Yiping, Korn, Joshua M, Arking, Dan E, Miller, David T, Fossdal, Ragnheidur, Saemundsen, Evald, Stefansson, Hreinn, Stefansson, Kari, Ferreira, Manuel A.R, Green, Todd, Platt, Orah S, Ruderfer, Douglas M, Walsh, Christopher A, Altshuler, David, Chakravarti, Aravinda, Tanzi, Rudolph E, Santangelo, Susan L, Gusella, James F, Sklar, Pamela, Wu, Bai-Lin, Daly, Mark J
• Format: Journal Article
• Language: English
• Published: United States Massachusetts Medical Society 14.02.2008
• Subjects: Autism; Autistic Disorder - genetics; Child; Chromosome Aberrations; Chromosome Deletion; Chromosomes, Human, Pair 15 - genetics; Chromosomes, Human, Pair 16 - genetics; Developmental Disabilities - genetics; DNA Mutational Analysis; Families & family life; Female; Genetic disorders; Genetic Predisposition to Disease; Genomics; Genotype; Genotype & phenotype; Humans; Intellectual Disability - genetics; Male; Mutation; Phenotype; Sequence Analysis, DNA - methods
• ISSN: 0028-4793; 1533-4406; 1533-4406
• DOI: 10.1056/NEJMoa075974

The causes of autism are largely unknown. This study establishes that aberrant dosage of a large genomic segment is associated with autism spectrum disorder. Deletion or duplication of the segment, which encompasses 25 known genes, was present in approximately 1% of case subjects and less than 0.1% of unscreened control subjects. This study establishes that an aberrant dosage of a large genomic segment is associated with autism spectrum disorder. Deletion or duplication of the segment, which encompasses 25 known genes, was present in approximately 1% of case subjects and less than 0.1% of unscreened control subjects. Autism is a pervasive developmental disorder defined by a neurobehavioral phenotype that includes social disability, communication impairment, repetitive behaviors, and restricted interests. The onset is generally before the age of 3 years, and the disorder has a prevalence of 0.6% in the population, affecting many more boys than girls. 1 Results of twin and family studies have shown that the heritability of autism is approximately 90%, making it one of the most heritable complex disorders. 2 In approximately 10% of patients, autism can be explained by genetic syndromes and known chromosomal anomalies (most of which have recognizable features in addition to autism), . . .