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

Journal

Medicine
ISSN: 1536-5964
Titre abrégé: Medicine (Baltimore)
Pays: United States
ID NLM: 2985248R

Informations de publication

Date de publication:
02 Feb 2024
Historique:
medline: 2 2 2024
pubmed: 2 2 2024
entrez: 2 2 2024
Statut: ppublish

Résumé

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. 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. 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. The patient was treated with IVF and PGT-M successively. 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. 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.

Identifiants

DOI: 10.1097/MD.0000000000037198 PMID: 38306523
pubmed: 38306523
doi: 10.1097/MD.0000000000037198
pii: 00005792-202402020-00017
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

e37198

Informations de copyright

Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.

Déclaration de conflit d'intérêts

The authors have no conflicts of interest to disclose.

Références

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Auteurs

Xinlian Chen (X)

Department of Medical Genetics, Center for Prenatal Diagnosis, West China Second University Hospital, Sichuan University, Sichuan, China.
Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Sichuan, China.
Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Sichuan, China.

Cuiting Peng (C)

Department of Medical Genetics, Center for Prenatal Diagnosis, West China Second University Hospital, Sichuan University, Sichuan, China.
Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Sichuan, China.
Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Sichuan, China.

Han Chen (H)

Department of Medical Genetics, Center for Prenatal Diagnosis, West China Second University Hospital, Sichuan University, Sichuan, China.
Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Sichuan, China.
Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Sichuan, China.

Fan Zhou (F)

Department of Medical Genetics, Center for Prenatal Diagnosis, West China Second University Hospital, Sichuan University, Sichuan, China.
Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Sichuan, China.
Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Sichuan, China.

Yuezhi Keqie (Y)

Department of Medical Genetics, Center for Prenatal Diagnosis, West China Second University Hospital, Sichuan University, Sichuan, China.
Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Sichuan, China.
Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Sichuan, China.

Yutong Li (Y)

Department of Medical Genetics, Center for Prenatal Diagnosis, West China Second University Hospital, Sichuan University, Sichuan, China.
Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Sichuan, China.
Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Sichuan, China.

Shanling Liu (S)

Department of Medical Genetics, Center for Prenatal Diagnosis, West China Second University Hospital, Sichuan University, Sichuan, China.
Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Sichuan, China.
Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Sichuan, China.

Jun Ren (J)

Department of Medical Genetics, Center for Prenatal Diagnosis, West China Second University Hospital, Sichuan University, Sichuan, China.
Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Sichuan, China.
Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Sichuan, China.
ORCID: 0000-0001-6801-516

Classifications MeSH