NIPBL and Cornelia de Lange syndrome: At present, six causing genes of CdLS have been reported, and approximately 60% of CdLS patients have pathogenic variants in the NIPBL (OMIM #608667) gene (Kline et al., 2018), The NIPBL gene contains 47 exons located at 5p13.2, encoding two delangin subtypes A and B (Nipped-B-like protein) with 2804 and 2697 amino acids (Krantz et al., 2004).