Genetic analysis of two children patients affected with CHARGE syndrome.
- VernacularTitle:两例CHARGE综合征患儿的基因突变分析
- Author:
Guoqiang LI
1
;
Niu LI
;
Yufei XU
;
Juan LI
;
Yu DING
;
Yiping SHEN
;
Xiumin WANG
;
Jian WANG
Author Information
- Publication Type:Case Reports
- MeSH: CHARGE Syndrome; genetics; DNA Helicases; genetics; DNA-Binding Proteins; genetics; Genetic Testing; High-Throughput Nucleotide Sequencing; Humans; Infant; Male; Mutation
- From: Chinese Journal of Medical Genetics 2018;35(2):244-247
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze two Chinese pediatric patients with multiple malformations and growth and development delay.
METHODSBoth patients were subjected to targeted gene sequencing, and the results were analyzed with Ingenuity Variant Analysis software. Suspected pathogenic variations were verified by Sanger sequencing.
RESULTSHigh-throughput sequencing showed that both patients have carried heterozygous variants of the CHD7 gene. Patient 1 carried a nonsense mutation in exon 36 (c.7957C>T, p.Arg2653*), while patient 2 carried a nonsense mutation of exon 2 (c.718C>T, p.Gln240*). Sanger sequencing confirmed the above mutations in both patients, while their parents were of wild-type for the corresponding sites, indicating that the two mutations have happened de novo.
CONCLUSIONTwo patients were diagnosed with CHARGE syndrome by high-throughput sequencing.
