Two cases of Cornelia de Lange syndrome with NIPBL gene mutations

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.