Open AccessAnalysis of clinical and genetic characteristics in 10 Chinese individuals with Cornelia de Lange syndrome and literature review
Author(s) -
Liu Chen,
Li Xiaoying,
Cui Jing,
Dong Rui,
Lv Yvqiang,
Wang Dong,
Zhang Haiyan,
Li Xiaomei,
Li Zilong,
Ma Jian,
Liu Yi,
Gai Zhongtao
Publication year - 2020
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.1471
Subject(s) - cornelia de lange syndrome , missense mutation , sanger sequencing , nonsense , genetic heterogeneity , genetics , nonsense mutation , pathological , biology , dna sequencing , gene , medicine , mutation , pathology , phenotype
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.