Analysis of clinical manifestation and genetic mutations in two patients with Cornelia de Lange syndrome.
- VernacularTitle:两例Cornelia de Lange综合征患儿的临床表现与基因突变分析
- Author:
Yequan MIAO
1
;
Yueyue ZHU
;
Qigang ZHANG
;
Haowei GUO
;
Yuxiang ZHAO
;
Longfei CHENG
;
Liangrong HAN
;
Ying NING
;
Qiong PAN
Author Information
- Publication Type:Journal Article
- From: Chinese Journal of Medical Genetics 2018;35(4):493-497
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo detect potential mutations in two neonates suspected for Cornelia de Lange syndrome (CdLS).
METHODSPeripheral 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.
RESULTSThe 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.
CONCLUSIONThe c.7219C to T and p.D2339Lfs*4 mutations of the NIPBL gene probably account for the disease in both patients.
