[Analysis of clinical manifestation and genetic mutations in two patients with Cornelia de Lange syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 35(4): 493-497, 2018 Aug 10.
Article
em Zh
| MEDLINE
| ID: mdl-30098241
ABSTRACT
OBJECTIVE:
To detect potential mutations in two neonates suspected for Cornelia de Lange syndrome (CdLS).METHODS:
Peripheral blood samples from the neonates and their parents were collected and analyzed for CdLS-related genes using targeted sequence capture and next-generation sequencing. Suspected mutations were confirmed by direct Sanger sequencing.RESULTS:
The neonates were found to respectively carry mutations c.7219C to T and p.D2339Lfs*4 of the NIPBL gene, among which the p.D2339Lfs*4 mutation has not been reported previously. No pathogenic mutation was found in other CdLS-related genes including NIPBL, SMC1A, SMC3, RAD21 and HDAC8.CONCLUSION:
The c.7219C to T and p.D2339Lfs*4 mutations of the NIPBL gene probably account for the disease in both patients.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Cornélia de Lange
Limite:
Humans
/
Newborn
Idioma:
Zh
Ano de publicação:
2018
Tipo de documento:
Article