A report of 2 cases of Cornelia de Lange syndrome (CdLS) and an analysis of clinical and genetic characteristics in a Chinese CdLS cohort.

Cornelia de Lange syndrome (CdLS) is a rare dominantly inherited developmental disorder with an estimated prevalence of 0.5-10:100,000 and no racial disparity in prevalence. The aim of this study was to present two unrelated Chinese CdLS individuals with mutations in NIPBL and to perform a comprehensive analysis of a Chinese cohort with CdLS. Two unrelated Chinese patients complaining of short stature were referred to the outpatient department of Peking Union Medical College Hospital (PUMCH). Their clinical data at birth and at the most recent assessment were collected. Mutation analysis was carried out by whole exome sequencing. Twenty-four Chinese cases with CdLS were identified through a systematic review of the literature published between 1987 and 2017. Two patients presented with typical phenotypes, characteristic complications of CdLS and mutations in the NIPBL gene. The average age at diagnosis of the 26 Chinese cases was higher than that of other cohorts. The frequencies of characteristic manifestations of CdLS were similar with those of other populations. By investigating 26 Chinese cases of CdLS, we observed that the clinical data and gene variants in the Chinese cohort of CdLS patients were generally in accordance with those of other populations.

Li S ，Miao H ，Yang H ，Wang L ，Gong F ，Chen S ，Zhu H ，Pan H ... -  《Molecular Genetics & Genomic Medicine》

Analysis of clinical and genetic characteristics in 10 Chinese individuals with Cornelia de Lange syndrome and literature review.

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. 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. 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. 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.

Liu C ，Li X ，Cui J ，Dong R ，Lv Y ，Wang D ，Zhang H ，Li X ，Li Z ，Ma J ，Liu Y ，Gai Z ... -  《Molecular Genetics & Genomic Medicine》

Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome.

Hei M ，Gao X ，Wu L 《BMC Pediatrics》

Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients.

Schoumans J ，Wincent J ，Barbaro M ，Djureinovic T ，Maguire P ，Forsberg L ，Staaf J ，Thuresson AC ，Borg A ，Nordgren A ，Malm G ，Anderlid BM ... -  《EUROPEAN JOURNAL OF HUMAN GENETICS》

A Novel de Novo Variant in 5' UTR of the NIPBL Associated with Cornelia de Lange Syndrome.

Chen Y ，Chen Q ，Yuan K ，Zhu J ，Fang Y ，Yan Q ，Wang C ... -  《Genes》