A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability behavioral problems and craniofacial anomalies

摘要

BackgroundAmong the 21 annotated genes at Xq22.2, PLP1 is the only known gene involved in Xq22.2 microdeletion and microduplication syndromes with intellectual disability. Using an atypical microdeletion, which does not encompass PLP1, we implicate a novel gene GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies.