title: Genetics of recessive cognitive disorders.
abstract: Most severe forms of intellectual disability (ID) have specific genetic causes. Numerous X chromosome gene defects and disease-causing copy-number variants have been linked to ID and related disorders, and recent studies have revealed that sporadic cases are often due to dominant de novo mutations with low recurrence risk. For autosomal recessive ID (ARID) the recurrence risk is high and, in populations with frequent parental consanguinity, ARID is the most common form of ID. Even so, its elucidation has lagged behind. Here we review recent progress in this field, show that ARID is not rare even in outbred Western populations, and discuss the prospects for improving its diagnosis and prevention.
authors.affiliation: Max Planck Institute of Molecular Genetics, Berlin, Germany.
authors.forename: Luciana
authors.initials: L
authors.lastname: Musante
authors.affiliation: Max Planck Institute of Molecular Genetics, Berlin, Germany. Electronic address: ropers@molgen.mpg.de.
authors.forename: H Hilger
authors.initials: HH
authors.lastname: Ropers
mesh_terms: D003072:Cognition Disorders / Q000235:genetics*; D003241:Consanguinity; D005808:Genes, Recessive; D050172:Genes, X-Linked; D008040:Genetic Linkage; D056426:Genetic Loci; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D009154:Mutation
keywords: autosomal recessive ID; healthcare; homozygosity mapping; next-generation sequencing