一例Cornelia de Lange综合征患儿的NIPBL基因突变分析

Analysis of NIPBL gene mutation in a patient with Cornelia de Lange syndrome

目的探讨1例CorneliadeLange综合征（Cornelia de Langesyndrome，CdLS）患儿基因型与表型的对应关系。方法对1例经剖宫产出生、拟诊为CdLS的女婴进行基因检测。结果患儿表现为特殊面容，眉毛长且浓密，眼距宽，矢状缝大，耳位低，下颌后缩，双脚拇趾为多趾并趾，哭声低、吸吮差、反应迟钝。对CdLS相关的NIPBL、SMC1A、SMC3、RAD21和HDAC8基因进行检测发现，患儿的NIPBL基因存在杂合缺失突变，缺失区域涉及第46外显子和第47外显子的一部分，可能使下游序列发生移码，导致蛋白序列异常。结论发现了1例CdLS相关的新突变，丰富了NIPBL基因的突变谱，对于进一步明确其基因型一表型的对应关系具有重要的价值。

Objective To analyze the genotype-phenotype correlation in a case with Cornelia de Lange syndrome （CdLS）. Methods Genetic testing was carried out for a baby girl born by Cesarean section. The patient had clinical features including peculiar face, long bushy eyebrows, hypertelorism, wide sagittal suture, low-set ears, retrognathia, polydactyly and polysyndactyly of first toes, weak cry, poor suck and slow response, and was suspected as CdLS. Results Sequencing of CdLS-related genes including NIPBL, SMCIA, SMC3, RAD21 and HDAC8A has identified a novel heterozygous deletional mutation of the NIPBL gene. The deletion region has encompassed exon 46 and part of exon 47. The frameshift caused by the mutation has led to significant alteration of its protein sequence. Conclusion A novel deletional mutation of the NIPBL gene has been identified, which has enriched its mutational spectrum and may facilitate further research into the genotype-phenotype correlation of CdLS.