Preimplantation genetic testing for X-linked chronic granulomatous disease induced by a CYBB gene variant: A case report.

ABSTRACT:

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.

SUBMITTER: Chen X 

PROVIDER: S-EPMC10843245 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature