[Genetic analysis of two children patients affected with CHARGE syndrome].

ABSTRACT

OBJECTIVE: To analyze two Chinese pediatric patients with multiple malformations and growth and development delay. METHODS: 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. RESULTS: 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. CONCLUSION: Two patients were diagnosed with CHARGE syndrome by high-throughput sequencing.