Preimplantation genetic testing for X-linked chronic granulomatous disease induced by a CYBB gene variant: A case report.
Medicine (Baltimore)
; 103(5): e37198, 2024 Feb 02.
Article
em En
| MEDLINE
| ID: mdl-38306523
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Diagnóstico Pré-Implantação
/
Doença Granulomatosa Crônica
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Female
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Humans
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Male
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Pregnancy
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article