2例Cornelia de Lange综合征病例报告并NIPBL基因突变研究

Two cases of Cornelia de Lange syndrome with NIPBL gene mutations

摘要:

目的：对2例生长发育迟缓伴有特殊面容及肢体发育异常的患儿进行基因检测，实现罕见病的精准诊断，为遗传咨询提供指导。方法：应用单基因检测及全外显子组高通量测序技术对临床疑似CdLS患儿进行致病基因突变筛查，并行一代测序验证以及患儿父母的验证。结果：本研究中的2例患儿均检测到国内外尚未报道的NIPBL基因突变，c.2252 dupA、p.Asn751Lysfs以及NM-015384.4：c.6179dupA，父母均无携带，为新生变异。结论：对于发育迟缓伴特殊面容及肢体异常的患儿要考虑到Cornelia de Lang综合征可能，采用基因检测手段实现精准诊断，为患者及家属遗传咨询提供依据。

Abstract:

Objective：To perform genetic testing on two children with growth retardation，unusual facies，and limb abnormalities，and to achieve precise diagnosis of a rare disease and provide guidance for genetic counseling. Methods：Single-gene sequencing and high-throughput whole-exome sequencing were used to detect mutations in children with clinically suspected Cornelia de Lang syndrome （CdLS），which were also confirmed by Sanger sequencing and the sequencing results from the parents. Results：Two children were found to have NIPBL gene mutations：c.2252 dupA，p.Asn751Lysfs and NM-015384.4：c.6179dupA，which had not been reported before. These were also de novo mutations，not detected in their parents. Conclusion：CdLS needs to be considered in children with growth retardation，unusual facies，and limb abnormalities. Genetic testing can be used to achieve precise diagnosis and provide genetic coun－seling for patients and their families.