Clinical and molecular consequences of disease-associated de novo mutations in SATB2.
Hemant BenganiMark HandleyMohsan AlviChristoffer NellåkerMelissa LeesSally Ann LynchWayne LamMadeleine FannemelAnn NordgrenAnn NordgrenM KvarnungSarju MehtaSarju G MehtaMargo WhitefordFiona StewartFiona ConnellJill Clayton-SmithSahar MansourShehla MohammedAlan FryerJenny Mortonnull nullDetelina GrozevaTara AsamDavid MooreAlejandro SifrimAlejandro SifrimMatthew E HurlesHelen V FirthF Lucy RaymondF Lucy RaymondChristoffer Nellåkernull Ddd StudyDavid R FitzPatrickPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2017)
SATB2 haploinsufficiency is a common cause of syndromic intellectual disability. When mutant SATB2 protein is produced, the protein appears functionally inactive with a disrupted pattern of chromatin or matrix association.Genet Med advance online publication 02 February 2017.