Fig. 2: Schematic representation of the MED12 gene (not to scale).
From: De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females
The MED12 gene contains 45 exons and encodes a protein of 2177 amino acids. The MED12 domain (green) is encoded by exons 3–4 and includes amino acids 103–161, the LCEWAV domain (pink) is encoded by exons 7–17 and includes amino acids 286–757, and the PQL domain (blue) is encoded by exons 38–42 and includes amino acids 1616–2051. Pathogenic variants reported in females are indicated above the protein schematic; pathogenic variants reported in males are indicated below the protein schematic. Numbers refer to the accompanying table, which contains variant data and detailed patient phenotype. Black circles denote individuals with nonsyndromic intellectual disability, unfilled circles denote individuals with syndromic intellectual disability, gray squares denote individuals with Ohdo syndrome, blue squares denote individuals with Opitz–Kaveggia syndrome, red squares denote individuals with Lujan syndrome, and unfilled squares denote individuals with limited or prenatal phenotypes. Stars indicate our newly described patient cohort with Hardikar syndrome.
