目的 对我国NIPBL基因突变的德朗热综合征(Cornelia de Lange syndrome，CdLS)1型患儿进行基因型和表现型分析。方法 以知网、万方、PubMed数据库为文献来源，检索建库至2022年9月发表的相关文献。本研究共纳入41例CdLS1型患者，其中1例来自四川省妇幼保健院儿科个案报道，其余40例均来自文献综述。回顾性分析这41例CdLS1型患者的基因型与表现型特征。结果 我国CdLS1型患者临床表现主要为特殊颅面畸形100。0％(41/41)、肢体畸形100。0％(41/41)、智力障碍100。0％(21/21)、矮小症97。1％(33/34)，偶有先天性心脏病(5例)、肾囊肿(3例)、隐睾(2例)、腭裂(2例)、癫痫(2例)等表现，尚无合并先天性膈疝病例报道。诊断年龄为生后胎儿期至12岁，产前诊断6。1％(2/33)，新生儿期诊断30。3％(10/33)。本研究CdLS1型患儿中移码突变26。8％(11/41)、剪切突变24。4％(10/41)、错义突变22。0％(9/41)、无义突变22。0％(9/41)，CdLS1患者基因型与表现型比较结果差异无统计学意义(H=3。005，P=0。391)。结论 本研究CdLS1型患者中，经典型80。5％，非经典型14。6％，疑似4。9％，尚未发现基因型与表型相关。总结并分析CdLS1型患者的临床特点和基因分型，可为临床上早期识别和诊断提供参考。
Analysis of clinical manifestations and genetic study of Cornelia de Lange syndrome caused by NIPBL gene mutation
Objective To explore the genotype and phenotype of children with the Cornelia de Lange syndrome(CdLS)type 1 NIPBL gene mutation in China.Methods The CNKI,Wanfang,and PubMed databases were used as literature sources to search for relevant literature published from the establishment of the database until September 2022.A total of 41 patients with CdLS1 were included in this study,of which one case was from the pediatrics department of Sichuan Provincial Maternity and Child Health Care Hospital,and the remaining 40 cases were from the literature review.The genotypic and phenotypic characteristics of these 41 patients with CdLS1 were retrospectively analyzed.Results The clinical manifestations of CdLS1 patients in China were mainly specific craniofacial malformations 100％(41/41),limb deformities 100％(41/41),mental retardation 100％(21/21),dwarfism 97.1％(33/34),and occasional congenital heart disease(5 cases),renal cysts(3 cases),cryptorchidism(2 cases),cleft palate(2 cases),epilepsy(2 cases).No cases of combined congenital diaphragmatic hernia have been reported.The age of diagnosis was the postnatal fetal period to 12 years,the prenatal diagnosis was 6.1％(2/33),and the neonatal diagnosis was 30.3％(10/33).In this study,26.8％(11/41)of the children with CdLS1 type had shifted code mutations,24.4％(10/41)had shear mutations,22.0％(9/41)had missense mutations,22.0％(9/41)had nonsense mutations,and the difference in the results of the comparison between the genotypes of the patients with CdLS1 and the phenotypes of the CdLS1 patients was not statistically significant(H=3.005,P=0.391).Conclusion In this study,80.5％of CdLS1 type patients were typical,14.6％were atypical,and 4.9％were suspected,and no association between genotype and phenotype was found.Summarize and analyze the clinical characteristics and genotyping of CdLS1 patients,which can provide a reference for the early clinical identification and diagnosis.
Cornelia de Lange syndromeNIPBL genemutationtrio-whole exome sequencing
万方数据
维普
