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Published: 2021-05-31
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DOI: https://doi.org/10.52852/tcncyh.v138i2.64
Issue
Vol. 138 No. 2 (2021)
Section
Các bài báo
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Ngọc, C. T. B., & Dũng, V. C. (2021). Utilization of whole exome sequencing to identify mutations of CYBB gene in patients with x-link chronic granulomatous disease . Journal of Medical Research, 138(2), 19-27. https://doi.org/10.52852/tcncyh.v138i2.64

Utilization of whole exome sequencing to identify mutations of CYBB gene in patients with x-link chronic granulomatous disease

Cấn Thị Bích Ngọc, Vũ Chí Dũng

Main Article Content

Abstract

Chronic granulomatous disease (CGD) is a rare genetically heterogenous primary immunodeficiency disease resulting from a defect of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex. The disease is often diagnosed in young children with severe and life-threatening fungal or bacterial infections. One cause of CGD is mutation of the CYBB gene and the mutation is inherited in an X-linked or autosomal recessive manner. In this case series report, we described a clinical features and laboratory and genetic findings of two Vietnamese patients with CYBB gene mutation resulting in CGD. Two patients were male aged 15 months and 5.5 months, are from two different families, and exhibited recurrent persistent pneumonia from infancy. Both patients had a family history of  similar illness. Whole-exome sequencing show pathogenic variants c.141del (p.S48QfsX13) and c.1548G>A (p.W516X)in CYBB gene. Both patients did not respond well to treatment and subsequently died. This is the first report of patients with X linked-CGD in Vietnam. Information from gene sequencing could have been helpful for prenatal diagnosis and genetic counseling for the two patients’ families.

Article Details

Keywords

Chronic granulomatous disease, CYBB gene mutation

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