Li Guoqiang, Li Niu, Xu Yufei, Li Juan, Ding Yu, Shen Yiping, Wang Xiumin, Wang Jian
Department of Medical Genetics, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Apr 10;35(2):244-247. doi: 10.3760/cma.j.issn.1003-9406.2018.02.022.
To analyze two Chinese pediatric patients with multiple malformations and growth and development delay.
Both 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.
High-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.
Two patients were diagnosed with CHARGE syndrome by high-throughput sequencing.
分析两名患有多种畸形及生长发育迟缓的中国儿科患者。
对两名患者均进行靶向基因测序，并使用 Ingenuity Variant Analysis 软件分析结果。通过 Sanger 测序验证疑似致病变异。
高通量测序显示两名患者均携带 CHD7 基因的杂合变异。患者 1 在第 36 外显子携带一个无义突变（c.7957C>T，p.Arg2653*），而患者 2 在第 2 外显子携带一个无义突变（c.718C>T，p.Gln240*）。Sanger 测序证实两名患者均存在上述突变，而其父母在相应位点为野生型，表明这两个突变均为新发突变。
通过高通量测序，两名患者被诊断为 CHARGE 综合征。
