Identification and prenatal diagnosis of a novel NIPBL mutation underlying Cornelia De Lange syndrome.
10.3760/cma.j.issn.1003-9406.2019.09.014
- Author:
Zhouxian BAI
1
;
Xiangdong KONG
Author Information
1. Genetic and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450000, China.kongxd@263.net.
- Publication Type:Journal Article
- MeSH:
De Lange Syndrome;
diagnosis;
genetics;
Female;
Heterozygote;
Humans;
Infant;
Mutation;
Pregnancy;
Prenatal Diagnosis;
Proteins;
genetics
- From:
Chinese Journal of Medical Genetics
2019;36(9):910-913
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for an infant featuring developmental delay, hand deformity and hypertonia of extremities.
METHODS:Clinical data and peripheral blood samples of the proband and her parents were collected. Following DNA extraction, potential mutations were screened on an Ion PGM platform using a gene panel. Suspected mutation was verified by PCR and Sanger sequencing.
RESULTS:A novel heterozygous nonsense mutation, c.2521C>T(p.R841X), was identified in the NIPBL gene. The mutation may cause premature termination of translation of the adhesion protein loading factor at 841st amino acids. The same mutation was not found in her parents and 931 healthy controls, and was absent from public databases including ExAC and 1000G. Bioinformatic analysis suggested the mutation to be disease causing.
CONCLUSION:The c.2521C>T (p.R841X) mutation of the NIPBL gene probably underlies the Cornelia De Lange syndrome in the infant. Prenatal diagnosis may be provided to this family upon their subsequent pregnancy.
