Identification of a Novel Mutation in the CYBB Gene, p.Asp378Gly, in a Patient With X-linked Chronic Granulomatous Disease

Song, Sang Mi; Park, Mi Ran; Kim, Do Soo; Kim, Jihyun; Kim, Yae Jean; Ki, Chang Seok; Ahn, Kangmo

doi:10.4168/aair.2014.6.4.366

Cited by 4 publications

(5 citation statements)

References 26 publications

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“…The main clinical manifestations are repeated and severe organ infections, including lungs, lymph nodes, liver, and skin. Occasionally CGD can present as a cardiac abscess or phlebitis, complicating the diagnosis, especially in neonates (Song et al, 2014). The most common type of CGD (~66%) is caused by a mutation on Xp21 involving the CYBB gene.…”

Section: Discussionmentioning

confidence: 99%

Chronic granulomatous disease associated with Duchenne muscular dystrophy caused by Xp21.1 contiguous gene deletion syndrome: Case report and literature review

Dai²,

Jiang³

et al. 2023

Front. Genet.

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Chronic granulomatous disease (CGD) and Duchenne muscular dystrophy (DMD) are X-linked recessive disorders whose genes are 4.47 Mb apart within Xp21.1. A combination of both diseases is rare with only five cases reported in the literature where it is known as Xp21.1 “contiguous gene deletion syndrome”. We describe a male neonate who presented with sepsis at 19 days of age. The diagnosis of CGD with DMD was established through copy number variation sequencing (CNV-seq) with an extensive 7.5 Mb deletion of Xp21.2-Xp11.4 of the proband. One of his elder sisters and his mother are carriers. The deletion includes six known genes: glycerol kinase (GK), dystrophin (DMD), cilia- and flagella-associated protein 47 (CFAP47), gp91 (CYBB), Kell antigen (XK), and retinitis pigmentosa GTPase regulator (RPGR). Laboratory assays revealed an increased creatine kinase (CK) level, decreased gp91 expression, and a positive nitroblue tetrazolium test. Due to the extensive gene deletion and the poor prognosis, the family determined to pursue conservative management without further laboratory workup. The patient passed away from a fulminant infection at the age of three-month at a local medical facility. To the best of our knowledge, this case of Xp21.1 contiguous gene deletion syndrome represents the most extensive deletion of genes in this region ever reported. A literature review of similar cases is presented.

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Section: Discussionmentioning

confidence: 99%

Chronic granulomatous disease associated with Duchenne muscular dystrophy caused by Xp21.1 contiguous gene deletion syndrome: Case report and literature review

Dai²,

Jiang³

et al. 2023

Front. Genet.

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“…Chronic granulomatous disease (CGD) is a rare inherited disorder with a prevalence of 1/200,000–250,000 and is characterized by early and recurrent severe bacterial or fungal infections and granuloma formation, [ 1 ] and the prevalence rates of CGD are similar in different ethnic and racial crowds. [ 2 ] CGD is a primary immunodeficiency disorder caused by damage to the Nicotinamide adenine dinucleotide phosphate oxidase system. The Nicotinamide adenine dinucleotide phosphate oxidase system consists of 5 subunits: gp91phox (also called NOX2, encoding gene CYBB), p22phox (encoding gene CYBA), p47phox (encoding gene NCF1), p67phox (encoding gene NCF2), and p40phox (encoding gene NCF4).…”

Section: Introductionmentioning

confidence: 99%

“…Mutations in CYBB account for two-thirds of CGD cases. [ 2 , 3 ] The CYBB gene located in Xp21.1 could cause X-linked CGD (X-CGD, MIM: 300481) disease.…”

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

“…The Nicotinamide adenine dinucleotide phosphate oxidase system consists of 5 subunits: gp91phox (also called NOX2, encoding gene CYBB), p22phox (encoding gene CYBA), p47phox (encoding gene NCF1), p67phox (encoding gene NCF2), and p40phox (encoding gene NCF4). Mutations in CYBB account for two-thirds of CGD cases [2,3] . The CYBB gene located in Xp21.1 could cause X-linked CGD (X-CGD, MIM: 300481) disease.…”

Section: Introductionmentioning

confidence: 99%

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Identification of a novel mutation in CYBB gene in a Chinese neonate with X-linked chronic granulomatous disease

et al. 2022

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Rationale:X-linked chronic granulomatous disease (X-CGD) is an X-linked recessive disorder of the Nicotinamide adenine dinucleotide phosphate oxidase system that can cause primary immunodeficiency. Mutations in the CYBB gene located in Xp21.1 were accounting for X-CGD disease. More than 600 mutations have been identified as the cause of X-CGD in various populations worldwide.Patient concerns and diagnosis:In this study, the proband suffered from elevated white blood cells (WBC, 23.65 × 109/L), mainly in neutral (16.4 × 109/L). The neutrophil oxidative index of the patient was 2.13, which was extremely low, whereas his mother was 69.0 (Ref >100). Next, next-generation sequencing of the primary immunodeficiency diseases -related gene panel was performed. One novel mutation was identified in the CYBB gene in the CGD case: c.55C>G in exon 2. The mutation was verified by Sanger sequencing. The mother of the patient was heterozygous for the c.55C>G mutation, and the father was normal. These mutations were not present in the 100 unrelated normal controls.Interventions and outcomes:The patient died from severe and uncontrollable pulmonary infection at 3 months of age.Lessons:The identification of these mutations in this study further expands the spectrum of known CYBB gene mutations and contributes to the genetic counseling and prenatal molecular diagnosis of X-CGD.

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Hematologically important mutations: X-linked chronic granulomatous disease (fourth update)

Roos

Leeuwen²,

Hsu³

et al. 2021

Blood Cells, Molecules, and Diseases

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Identification of a Novel Mutation in the CYBB Gene, p.Asp378Gly, in a Patient With X-linked Chronic Granulomatous Disease

Cited by 4 publications

References 26 publications

Chronic granulomatous disease associated with Duchenne muscular dystrophy caused by Xp21.1 contiguous gene deletion syndrome: Case report and literature review

Chronic granulomatous disease associated with Duchenne muscular dystrophy caused by Xp21.1 contiguous gene deletion syndrome: Case report and literature review

Identification of a novel mutation in CYBB gene in a Chinese neonate with X-linked chronic granulomatous disease

Hematologically important mutations: X-linked chronic granulomatous disease (fourth update)

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