title: PPP2R2C, a gene disrupted in autosomal dominant intellectual disability.
abstract: Intellectual disability (ID) comprises a vast collection of clinically diverse and genetically heterogeneous disorders characterized primarily by central nervous system defects of varying severity with or without additional dysmorphic, metabolic, neuromuscular or psychiatric features. Much progress has been made to elucidate the genetic causes for ID, especially on the X-chromosome. In order to identify autosomal genes involved in ID, patients with a balanced chromosomal rearrangement are a valuable source since the breakpoints may disrupt or deregulate a candidate ID gene(s). Here, we report a familial reciprocal translocation (4;6)(p16.1;q22) that segregates with mild ID, epilepsy and behavioural problems and that disrupts the PPP2R2C gene on chromosome 4p. The PPP2R2C gene, encoding a subunit of protein phosphatase 2A, has a unique expression pattern in mouse brain that suggests a role in synaptic plasticity and hence learning and memory.
authors.affiliation: Centre for Human Genetics, University Hospital Leuven, Leuven, Belgium.
authors.forename: Liesbeth
authors.initials: L
authors.lastname: Backx
authors.forename: Joris
authors.initials: J
authors.lastname: Vermeesch
authors.forename: Elly
authors.initials: E
authors.lastname: Pijkels
authors.forename: Thomy
authors.initials: T
authors.lastname: de Ravel
authors.forename: Eve
authors.initials: E
authors.lastname: Seuntjens
authors.forename: Hilde
authors.initials: H
authors.lastname: Van Esch
mesh_terms: D000818:Animals; D002648:Child; D025063:Chromosome Disorders / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D004252:DNA Mutational Analysis; D004195:Disease Models, Animal; D005260:Female; D050172:Genes, X-Linked; D057895:Haploinsufficiency; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D051379:Mice; D010375:Pedigree; D054648:Protein Phosphatase 2 / Q000235:genetics* / Q000378:metabolism; D014178:Translocation, Genetic
chemical_list: C517192:PPP2R2C protein, human; D054648:Protein Phosphatase 2