目的　分析德朗热综合征的基因变异及临床表现。方法　收集1例疑诊德朗热综合征患儿的临床资料以及 全基因组二代测序基因分析资料。结果　6月龄男性患儿，生长缓慢，面容特殊（额部多毛、连心眉、弓形浓眉、睫毛长且 弯曲、双眼睑下垂、鼻梁低平、人中长、嘴唇薄、嘴角下斜）。患儿NIPBL基因第9外显子检测到c.1679delA（p.K566Sfs*48） 杂合突变，为未见文献报道的新发变异，患儿父母亲该基因位点均无异常。参照美国医学遗传学与基因组学学会指南，该 变异位点为致病性变异。结论　检测到NIPBL基因未见文献报道和收录的截短蛋白突变，丰富了基因突变图谱。

Objective　To explore the gene variation and clinical manifestation of Cornelia de Lange syndrome. Method The clinical information and data of whole-genome second-generation sequencing of a suspected Cornelia de Lange syndrome in a child were collected. Results　The 6-month-old boy had growth retardation and distinctive facial features (hairy forehead, synophrys, thick arched eyebrows, long and curved eyelashes, drooping double eyelids, low bridge of the nose, long philtrum, thin lips, and downslanting corners of the mouth). Heterozygous mutation of c.1679dela (p.k566sfs * 48) was detected in exon 9 of NIPBL gene in the child, which was a new mutation and had not been reported in literature. There was no abnormality in this gene locus in both of his parents. According to the guidelines of the American College of Medical Genetics and Genomics, the mutation site is pathogenic variation. Conclusion　A new truncated protein mutation was detected in NIPBL gene in a Cornelia de Lange syndrome patient, which had not been reported in the literature. It enriched the human gene mutation database.