Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting

• Published in: Brain research Vol. 1380; pp. 42 - 77
• Main Author: Betancur, Catalina
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 22.03.2011; Elsevier
• Subjects: Autism; brain; Child; Child Development Disorders, Pervasive; Child Development Disorders, Pervasive - genetics; Child Development Disorders, Pervasive - metabolism; Child Development Disorders, Pervasive - physiopathology; Child, Preschool; Copy number variation; Deletion; DNA microarrays; Duplication; Enumeration; Epilepsy; Etiology; genes; Genetic Diseases, Inborn; Genetic Diseases, Inborn - genetics; Genetic Diseases, Inborn - metabolism; Genetic Diseases, Inborn - physiopathology; Genetic Predisposition to Disease; Genetic Predisposition to Disease - genetics; geneticists; Genetics; genomics; Humans; Infant; Intellectual disability; Life Sciences; Literature reviews; loci; Mental retardation; metabolism; Molecular modelling; Mutation; Mutation - genetics; Neurodevelopmental disorders; Neurology; orbits; Phenotype; physiopathology; Autism; Intellectual disability; Copy number variation; Duplication; Deletion; CNV; PDD-NOS; ID; Mutation; ASDs; copy number variation; pervasive developmental disorder not otherwise specified; autism spectrum disorders; intellectual disability; mutation; deletion; autism; duplication

There is increasing evidence that autism spectrum disorders (ASDs) can arise from rare highly penetrant mutations and genomic imbalances. The rare nature of these variants, and the often differing orbits of clinical and research geneticists, can make it difficult to fully appreciate the extent to wh...