Abstract
BACKGROUND: Cornelia de Lange syndrome (CdLS) is a rare congenital developmental disorder with variable multisystem involvement and genetic heterogeneity. We aimed to analyze the clinical and genetic characteristics of Chinese individuals with CdLS. METHODS: We collected data regarding the neonatal period, maternal status, clinical manifestation, including facial dimorphisms and development, and follow-up treatment for individuals diagnosed with CdLS. In individuals with suspected CdLS, high-throughput sequencing, Sanger sequencing, and real-time qualitative PCR were used to verify the diagnosis. RESULTS: Variants, including six that were novel, were concentrated in the NIPBL (70%), HDAC8 (20%), and SMC3 (10%) genes. We found two nonsense, three splicing, and two deletion variants in NIPBL; a missense variant and an absence variant in HDAC8; and a missense variant in SMC3. Eleven cardinal features of CdLS were present in more than 80% of Chinese individuals. Compared with non-Chinese individuals of diverse ancestry, there were significant differences in the clinical characteristics of eight of these features. CONCLUSION: Six novel pathological variants were identified; thus, the study expanded the gene variant spectrum. Furthermore, most cardinal features of CdLS found in Chinese individuals were also found in individuals from other countries. However, there were significant differences in eight clinical features.