Preimplantation genetic testing for X-linked chronic granulomatous disease induced by a CYBB gene variant: A case
Xinlian Chen1,2,3, Cuiting Peng1,2,3, Han Chen1,2,3
1Department of Medical Genetics, Center for Prenatal Diagnosis, West China Second University Hospital, Sichuan University, Sichuan, China.
Introduction:
X-linked recessive chronic granulomatous disease (XR-CGD) is a severe primary immunodeficiency principally caused by a CYBB (OMIM: 300481) gene variant. Recurrent fatal bacterial or fungal infections are the main clinical manifestations of XR-CGD.
Patient Concerns:
In the current case, in vitro fertilization (IVF) associated with preimplantation genetic testing for monogenic disorder (PGT-M) was applied for a Chinese couple who had given birth to a boy with XR-CGD.
Diagnosis:
Next-generation sequencing-based SNP haplotyping and Sanger-sequencing were used to detect the CYBB gene variant (c.804 + 2T>C, splicing) in this family.
Interventions:
The patient was treated with IVF and PGT-M successively.
Outcomes:
In this IVF cycle, 7 embryos were obtained, and 2 of them were euploid and lacked the CYBB gene variant (c.804 + 2T>C). The PGT results were verified by prenatal diagnosis after successful pregnancy, and a healthy girl was eventually born.
Conclusion:
PGT-M is an effective method for helping families with these fatal and rare inherited diseases to have healthy offspring. It can availably block the transmission of disease-causing loci to descendant.
