Successful application of next‑generation sequencing for pre‑natal diagnosis in a pedigree with chronic granulomatosis disease
| Autor: | Shaoyang Deng, Run-Ying Zou, Fang Peng, Bing Zhang, Shengdan Nie, Xiang-Ling He, Li-Li Zhong, Xin Tian |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Proband pre-natal diagnosis Cancer Research Pediatrics medicine.medical_specialty Amniotic fluid Genetic counseling Pedigree chart DNA sequencing 03 medical and health sciences symbols.namesake 0302 clinical medicine Immunology and Microbiology (miscellaneous) cytochrome b-245 β chain medicine CYBB Sanger sequencing business.industry Articles General Medicine 030104 developmental biology 030220 oncology & carcinogenesis chronic granulomatosis disease symbols Etiology next-generation sequencing business |
| Zdroj: | Experimental and Therapeutic Medicine |
| ISSN: | 1792-1015 1792-0981 |
| Popis: | The present study describes the successful application of next-generation sequencing (NGS) in the clinical diagnosis, pathogenic gene identification, treatment and pre-natal diagnosis in a pedigree with chronic granulomatosis disease (CGD). A 36-day-old infant, born to non-consanguineous Chinese parents, was admitted to hospital due to a neck lump for 10 days. A blood sample was collected for NGS to identify the molecular etiology. Sanger sequencing was performed for the patient and his relatives, including the parents. Amniotic fluid exfoliative cells from the mother were collected for pre-natal diagnosis at week 16 of a subsequent pregnancy. A novel c.1520_1521del, p.Lys508Aspfs*10 (NM_000397) variant in the cytochrome b-245 β chain (CYBB) gene was identified in the proband, while the mother and the proband's 1-year-old sister were heterozygotes at this site. Karyotype analysis indicated that the fetus of the subsequent pregnancy was male. Sanger sequencing of amniotic cell DNA revealed that the fetus did not have the CYBB abnormality at the site. The results of the present study suggest that the variant in the CYBB gene was the cause of CGD in this pedigree and that pre-natal diagnosis using NGS is an effective method for providing genetic counseling to pedigrees with CGD. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|