Genetic analysis of 10 unrelated Korean families with p22-phox-deficient chronic granulomatous disease: an unusually identical mutation of the CYBA gene on Jeju Island, Korea.

Journal of Korean Medical Science
Young Mee KimKyung-Sue Shin

Abstract

Chronic granulomatous disease (CGD) is a rare hereditary disorder characterized by recurrent life-threatening bacterial and fungal infections. The underlying defect in CGD is an inability of phagocytes to produce reactive oxygen species as a result of defects in NADPH oxidase. Considering that CGD generally affects about 3-4 in 1,000,000 individuals, it is surprising that the prevalence of CGD on Jeju Island is 20.7 in 1,000,000 individuals. We performed genetic analysis on 12 patients from 10 unrelated families and found that all patients had an identical homozygous single-base substitution of C to T in exon 1 (c.7C>T) of the CYBA gene, which was expected to result in a nonsense mutation (p.Q3X). Because Jeju Island has long been a geologically isolated region, the high prevalence of CGD on Jeju Island is presumably associated with an identical mutation inherited from a common ancestor or proband.

References

Jan 13, 1995·Journal of Immunological Methods·S J VowellsT A Fleisher
Jul 8, 1998·Proceedings of the National Academy of Sciences of the United States of America·L YuM C Dinauer
Oct 26, 1999·Pediatrics International : Official Journal of the Japan Pediatric Society·M Hasui
Jan 18, 2002·The Journal of Biological Chemistry·Karine LapougeKatrin Rittinger
Sep 23, 2003·Current Opinion in Immunology·Paul G HeyworthJohn T Curnutte
Apr 15, 2004·Journal of Korean Medical Science·Heung-Bum OhSun-Young Oh
Nov 27, 2007·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Baldassarre MartireUNKNOWN IPINET
Apr 22, 2008·British Journal of Haematology·Shahram TeimourianNima Parvaneh
Aug 19, 2008·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Baruch WolachDirk Roos

❮ Previous
Next ❯

Citations

Mar 23, 2015·Allergologia et immunopathologia·S MeshaalA Elmarsafy
Aug 6, 2013·The Journal of Allergy and Clinical Immunology·Mustafa Yavuz KökerDirk Roos
Oct 4, 2012·Expert Review of Anti-infective Therapy·Josef Ben-AriBaruch Wolach
Oct 12, 2017·British Journal of Hospital Medicine·Suk Won ChangChan Il Song
May 26, 2016·Journal of Clinical Immunology·Rabab El HawaryAisha Elmarsafy
May 26, 2016·Journal of Clinical Immunology·Khaoula Ben-FarhatMohamed-Ridha Barbouche

❮ Previous
Next ❯

Methods Mentioned

BETA
flow cytometry
PCR
transgenic
genotyping

Software Mentioned

BLAST

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.