• Xinlian Chen, Cuiting Peng, Han Chen, Fan Zhou, Yuezhi Keqie, Yutong Li, Shanling Liu, and Jun Ren.
• Department of Medical Genetics, Center for Prenatal Diagnosis, West China Second University Hospital, Sichuan University, Sichuan, China.
• Medicine (Baltimore). 2024 Feb 2; 103 (5): e37198e37198.

IntroductionX-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 ConcernsIn 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.DiagnosisNext-generation sequencing-based SNP haplotyping and Sanger-sequencing were used to detect the CYBB gene variant (c.804 + 2T>C, splicing) in this family.InterventionsThe patient was treated with IVF and PGT-M successively.OutcomesIn 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.ConclusionPGT-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.Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.

25 keywords...

hide…