DNMT3A and Menkes disease: The overall frequency of MD-CH in our cohort was 10.2%, irrespective of AD or LOY status, and recurrently affected MD genes were TET2, DNMT3A, and SRSF2, which is consistent with the literature (Genovese et al, 2014; Jaiswal et al, 2014, 2017; Niroula et al, 2021; Dawoud et al, 2023; Woo et al, 2024).