De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females.
Dong LiAlanna StrongKaitlyn M ShenDavid CassimanMaria Van DyckNatalia Duarte LinharesEugenia Ribeiro ValadaresTiancheng WangSergio D J PenaJaak JaekenSamantha VerganoElaine ZackaiAnne HingPenny ChowArupa GangulyTasja ScholzTatjana BierhalsDeindl PhilippHakon HakonarsonElizabeth Joyce BhojPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
Pathogenic missense variants in the X-chromosome gene MED12 have previously been associated with Opitz-Kaveggia syndrome, Lujan syndrome, Ohdo syndrome, and nonsyndromic intellectual disability, primarily in males. We propose a fifth, female-specific phenotype for MED12, and suggest that nonsense and frameshift loss-of-function MED12 variants in females cause HS. This expands the MED12-associated phenotype in females beyond intellectual disability.