Fig. 1: Schematic illustrating MSL2 gene, mRNA, and protien structure and as well as annotatoins of pathogeneic variants.

A MSL2 gene structure and postions of pathogentic variants. B mRNA of MSL2 (Noted: NM_018133.3 was used to annotate the variant of patient #1 and NM_018133.4 was used for the patient #2 and #3). C MSL2 protein structure and pathogenic variants.