Defining p47-phox deficient chronic granulomatous disease in a Malay family

Kaur Harvindar Gill, Hemahwathy Chanthira Kumar, Jasbir Singh Dhaliwa, Farizawati Zabidi, Lean Hamzah Sendut, Rahim Md Noah, Lokman Mohd. Noh, Amir Hamzah Abdul Latiff, Shahnaz Murad

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Background: The most common autosomal form of Chronic Granulomatous Disease, p47-phox deficient CGD, generally features a GT (ΔGT) deletion in the GTGT sequence at the start of exon 2 on the NCF-1 gene. This consistency is due to the coexistence of and the recombination between 2 homologous pseudogenes (Ψs) and NCF-1. The GTGT: ΔGT ratio mirrors the NCF- 1: NCF-1Ψ ratio and is 2:4 in normal individuals. Objective: To determine the molecular basis of the Autosomal-CGD in a family with 2 children, a male and female, affected by the disease. The female patient suffered recurrent infection, retinitis pigmentosa and discoid lupus. Methods: Chemiluminescence (CL) was used to study the respiratory burst, while genetic analysis was done by RT-PCR, PCR, ΔGT and the 20bp gene scans. Results: The CL response of the patient was profoundly low. The patient's p47-phox band was absent in the RT-PCR for NADPH-oxidase component mRNAs. The ΔGT scan showed that the patient's GTGT: ΔGT ratio was 0:6, the parents' and the younger brother's was 1:5 and the younger sister's was 2:4. Examination of other NCF-1/ NCF-1ys differences showed that the father had a compound ΔGT allele ie. ΔGT- 20bp, inherited by the patient, and that both parents had compound GTGT alleles with a single 30bp segment in intron 1. Conclusions: The patient was a classic, homozygous ΔGT p47-phox deficient CGD with one allele harbouring a compound ΔGT-20bp gene. The ΔGT and 20bp gene scans offer a relatively simple and efficient means of defining a p47-phox deficient CGD patient.

Original languageEnglish
Pages (from-to)313-320
Number of pages8
JournalAsian Pacific Journal of Allergy and Immunology
Volume30
Issue number4
Publication statusPublished - 2012
Externally publishedYes

Fingerprint

Chronic Granulomatous Disease
Alleles
Luminescence
Polymerase Chain Reaction
Genes
Siblings
Parents
Pseudogenes
Retinitis Pigmentosa
Respiratory Burst
NADPH Oxidase
4-ethoxymethylene-2-phenyl-2-oxazoline-5-one
Fathers
Introns
Genetic Recombination
Exons
Messenger RNA
Infection

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

Cite this

Gill, K. H., Kumar, H. C., Dhaliwa, J. S., Zabidi, F., Sendut, L. H., Md Noah, R., ... Murad, S. (2012). Defining p47-phox deficient chronic granulomatous disease in a Malay family. Asian Pacific Journal of Allergy and Immunology, 30(4), 313-320.

Defining p47-phox deficient chronic granulomatous disease in a Malay family. / Gill, Kaur Harvindar; Kumar, Hemahwathy Chanthira; Dhaliwa, Jasbir Singh; Zabidi, Farizawati; Sendut, Lean Hamzah; Md Noah, Rahim; Mohd. Noh, Lokman; Latiff, Amir Hamzah Abdul; Murad, Shahnaz.

In: Asian Pacific Journal of Allergy and Immunology, Vol. 30, No. 4, 2012, p. 313-320.

Research output: Contribution to journalArticle

Gill, KH, Kumar, HC, Dhaliwa, JS, Zabidi, F, Sendut, LH, Md Noah, R, Mohd. Noh, L, Latiff, AHA & Murad, S 2012, 'Defining p47-phox deficient chronic granulomatous disease in a Malay family', Asian Pacific Journal of Allergy and Immunology, vol. 30, no. 4, pp. 313-320.
Gill KH, Kumar HC, Dhaliwa JS, Zabidi F, Sendut LH, Md Noah R et al. Defining p47-phox deficient chronic granulomatous disease in a Malay family. Asian Pacific Journal of Allergy and Immunology. 2012;30(4):313-320.
Gill, Kaur Harvindar ; Kumar, Hemahwathy Chanthira ; Dhaliwa, Jasbir Singh ; Zabidi, Farizawati ; Sendut, Lean Hamzah ; Md Noah, Rahim ; Mohd. Noh, Lokman ; Latiff, Amir Hamzah Abdul ; Murad, Shahnaz. / Defining p47-phox deficient chronic granulomatous disease in a Malay family. In: Asian Pacific Journal of Allergy and Immunology. 2012 ; Vol. 30, No. 4. pp. 313-320.
@article{417574da27f44e4a9639a497c9a106b3,
title = "Defining p47-phox deficient chronic granulomatous disease in a Malay family",
abstract = "Background: The most common autosomal form of Chronic Granulomatous Disease, p47-phox deficient CGD, generally features a GT (ΔGT) deletion in the GTGT sequence at the start of exon 2 on the NCF-1 gene. This consistency is due to the coexistence of and the recombination between 2 homologous pseudogenes (Ψs) and NCF-1. The GTGT: ΔGT ratio mirrors the NCF- 1: NCF-1Ψ ratio and is 2:4 in normal individuals. Objective: To determine the molecular basis of the Autosomal-CGD in a family with 2 children, a male and female, affected by the disease. The female patient suffered recurrent infection, retinitis pigmentosa and discoid lupus. Methods: Chemiluminescence (CL) was used to study the respiratory burst, while genetic analysis was done by RT-PCR, PCR, ΔGT and the 20bp gene scans. Results: The CL response of the patient was profoundly low. The patient's p47-phox band was absent in the RT-PCR for NADPH-oxidase component mRNAs. The ΔGT scan showed that the patient's GTGT: ΔGT ratio was 0:6, the parents' and the younger brother's was 1:5 and the younger sister's was 2:4. Examination of other NCF-1/ NCF-1ys differences showed that the father had a compound ΔGT allele ie. ΔGT- 20bp, inherited by the patient, and that both parents had compound GTGT alleles with a single 30bp segment in intron 1. Conclusions: The patient was a classic, homozygous ΔGT p47-phox deficient CGD with one allele harbouring a compound ΔGT-20bp gene. The ΔGT and 20bp gene scans offer a relatively simple and efficient means of defining a p47-phox deficient CGD patient.",
author = "Gill, {Kaur Harvindar} and Kumar, {Hemahwathy Chanthira} and Dhaliwa, {Jasbir Singh} and Farizawati Zabidi and Sendut, {Lean Hamzah} and {Md Noah}, Rahim and {Mohd. Noh}, Lokman and Latiff, {Amir Hamzah Abdul} and Shahnaz Murad",
year = "2012",
language = "English",
volume = "30",
pages = "313--320",
journal = "Asian Pacific Journal of Allergy and Immunology",
issn = "0125-877X",
publisher = "The Allergy and Immunology Society of Thailand",
number = "4",

}

TY - JOUR

T1 - Defining p47-phox deficient chronic granulomatous disease in a Malay family

AU - Gill, Kaur Harvindar

AU - Kumar, Hemahwathy Chanthira

AU - Dhaliwa, Jasbir Singh

AU - Zabidi, Farizawati

AU - Sendut, Lean Hamzah

AU - Md Noah, Rahim

AU - Mohd. Noh, Lokman

AU - Latiff, Amir Hamzah Abdul

AU - Murad, Shahnaz

PY - 2012

Y1 - 2012

N2 - Background: The most common autosomal form of Chronic Granulomatous Disease, p47-phox deficient CGD, generally features a GT (ΔGT) deletion in the GTGT sequence at the start of exon 2 on the NCF-1 gene. This consistency is due to the coexistence of and the recombination between 2 homologous pseudogenes (Ψs) and NCF-1. The GTGT: ΔGT ratio mirrors the NCF- 1: NCF-1Ψ ratio and is 2:4 in normal individuals. Objective: To determine the molecular basis of the Autosomal-CGD in a family with 2 children, a male and female, affected by the disease. The female patient suffered recurrent infection, retinitis pigmentosa and discoid lupus. Methods: Chemiluminescence (CL) was used to study the respiratory burst, while genetic analysis was done by RT-PCR, PCR, ΔGT and the 20bp gene scans. Results: The CL response of the patient was profoundly low. The patient's p47-phox band was absent in the RT-PCR for NADPH-oxidase component mRNAs. The ΔGT scan showed that the patient's GTGT: ΔGT ratio was 0:6, the parents' and the younger brother's was 1:5 and the younger sister's was 2:4. Examination of other NCF-1/ NCF-1ys differences showed that the father had a compound ΔGT allele ie. ΔGT- 20bp, inherited by the patient, and that both parents had compound GTGT alleles with a single 30bp segment in intron 1. Conclusions: The patient was a classic, homozygous ΔGT p47-phox deficient CGD with one allele harbouring a compound ΔGT-20bp gene. The ΔGT and 20bp gene scans offer a relatively simple and efficient means of defining a p47-phox deficient CGD patient.

AB - Background: The most common autosomal form of Chronic Granulomatous Disease, p47-phox deficient CGD, generally features a GT (ΔGT) deletion in the GTGT sequence at the start of exon 2 on the NCF-1 gene. This consistency is due to the coexistence of and the recombination between 2 homologous pseudogenes (Ψs) and NCF-1. The GTGT: ΔGT ratio mirrors the NCF- 1: NCF-1Ψ ratio and is 2:4 in normal individuals. Objective: To determine the molecular basis of the Autosomal-CGD in a family with 2 children, a male and female, affected by the disease. The female patient suffered recurrent infection, retinitis pigmentosa and discoid lupus. Methods: Chemiluminescence (CL) was used to study the respiratory burst, while genetic analysis was done by RT-PCR, PCR, ΔGT and the 20bp gene scans. Results: The CL response of the patient was profoundly low. The patient's p47-phox band was absent in the RT-PCR for NADPH-oxidase component mRNAs. The ΔGT scan showed that the patient's GTGT: ΔGT ratio was 0:6, the parents' and the younger brother's was 1:5 and the younger sister's was 2:4. Examination of other NCF-1/ NCF-1ys differences showed that the father had a compound ΔGT allele ie. ΔGT- 20bp, inherited by the patient, and that both parents had compound GTGT alleles with a single 30bp segment in intron 1. Conclusions: The patient was a classic, homozygous ΔGT p47-phox deficient CGD with one allele harbouring a compound ΔGT-20bp gene. The ΔGT and 20bp gene scans offer a relatively simple and efficient means of defining a p47-phox deficient CGD patient.

UR - http://www.scopus.com/inward/record.url?scp=84873280034&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84873280034&partnerID=8YFLogxK

M3 - Article

VL - 30

SP - 313

EP - 320

JO - Asian Pacific Journal of Allergy and Immunology

JF - Asian Pacific Journal of Allergy and Immunology

SN - 0125-877X

IS - 4

ER -