PMID: 11920901Mar 29, 2002Paper

Prenatal diagnosis in two families with autosomal, p47(phox)-deficient chronic granulomatous disease due to a novel point mutation in NCF1

Prenatal Diagnosis
Martin de BoerD Roos

Abstract

Prenatal diagnosis was required in two unrelated families with chronic granulomatous disease (CGD) patients who lacked expression of p47(phox) protein; thus a search for mutations in NCF1 was undertaken. Gene scanning was applied to establish the relative number of coding and pseudo-NCF1 genes. PCRs specific for coding NCF1 cDNA and coding NCF1 exon-7 genomic DNA were devised. The normal 1:2 ratio of coding and pseudo-NCF1 genes was found in the patients. Sequencing of the RT-PCR product specific for mRNA from the coding NCF1 genes revealed a novel homozygous G579A mutation in both patients, changing the TGG codon for Trp193 into the TAG stop codon. This mutation was confirmed in genomic DNA. The parents of both patients were found to be heterozygotes for this mutation. In the chorionic villus DNA of the first family a heterozygous G579A mutation was found. Postpartum, functional NADPH oxidase tests were normal. In the second family, this mutation was present in homozygous form in the chorionic villus DNA. Following termination of the pregnancy, the diagnosis of p47(phox)-deficient CGD was confirmed on DNA extracted from fetal blood. This is the first report of prenatal diagnosis in p47(phox)-deficient CGD.

References

Feb 1, 1993·Annals of Medicine·D N Cooper
Oct 23, 1997·The Journal of Clinical Investigation·A GörlachJ T Curnutte

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Citations

Jul 13, 2002·Prenatal Diagnosis
Sep 23, 2003·Current Opinion in Immunology·Paul G HeyworthJohn T Curnutte
Apr 21, 2004·The Journal of Molecular Diagnostics : JMD·Megan S Lim, Kojo S J Elenitoba-Johnson
Mar 31, 2009·Journal of Human Genetics·Esther van de VosseJaap T van Dissel
Aug 12, 2009·Genetic Testing and Molecular Biomarkers·Marianne Antonius JakobsenTorben Barington
May 30, 2008·Seminars in Immunopathology·Marie José Stasia, Xing Jun Li
Sep 9, 2008·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Eric M LewisLinda C McPhail
Apr 27, 2004·Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Médicas E Biológicas·P Agudelo-FlórezA Condino-Neto
Sep 11, 2013·Clinical and Experimental Immunology·D Roos, M de Boer
Apr 10, 2019·Scandinavian Journal of Immunology·Shaghayegh TajikZahra Pourpak
Jun 13, 2019·Genetics and Molecular Biology·Francisco Carlos de Souza ValentimEliana Feldberg
Jan 23, 2014·Clinical Genetics·S Al-ZadjaliR Krishnamoorthy
Nov 24, 2016·Protein & Cell·Yong ZengHong-Wen Deng

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