HS6ST2 and Paganini-Miozzo syndrome: Using WES analysis, we identified a novel hemizygous single-nucleotide variant, c.764C>A (p.Pro255Glu), in Paganini-Miozzo syndrome-related gene HS6ST2 (NM_001077188.1, ENST00000521489.5) on chromosome Xq26.2 of the proband (Figure 2A).