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Title: PPP2R2C, a gene disrupted in autosomal dominant intellectual disability
Authors: Backx, Liesbeth
Vermeesch, Joris
Pijkels, Elly
de Ravel de l'Argentière, Thomy
Seuntjens, Eve
Van Esch, Hilde # ×
Issue Date: Sep-2010
Publisher: Elsevier
Series Title: European Journal of Medical Genetics vol:53 issue:5 pages:239-243
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 disrupting 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.
ISSN: 1769-7212
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Clinical Genetics
Molecular Biology (Celgen) (-)
× corresponding author
# (joint) last author

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