Prenatal diagnosis in two families with autosomal, p47phox-deficient chronic granulomatous disease due to a novel point mutation in NCF1

Prenatal Diagnosis

Volumn 22, Issue 3, 2002, Pages 235-240

  De Boer, Martin ^a   Singh, Vinita ^b   Dekker, Jan ^c   Di Rocco, Maja ^a   Goldblatt, David ^d   Roos, Dirk ^a,d  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b G GASLINI INSTITUTE   (Italy)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^d CENTRAL LABORATORY   (Netherlands)

Author keywords

Chronic granulomatous disease; NCF1 locus; p47phox

Indexed keywords

DNA; GENE PRODUCT; MESSENGER RNA; PROTEIN NCF1; PROTEIN P47; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; AUTOSOMAL DISORDER; CASE REPORT; CHORION VILLUS; FETUS BLOOD; GENE MUTATION; GENE SEQUENCE; GENOME; GRANULOMATOSIS; HETEROZYGOSITY; HUMAN; MALE; POINT MUTATION; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD;

ADOLESCENT; CHILD; CHORIONIC VILLI SAMPLING; EXONS; FEMALE; GESTATIONAL AGE; GRANULOMATOUS DISEASE, CHRONIC; HETEROZYGOTE; HUMANS; KARYOTYPING; MALE; NADPH OXIDASE; PHOSPHOPROTEINS; POINT MUTATION; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA;

EID: 0036126082     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.296     Document Type: Article

References (13)

1. 558 leading to X-linked chronic granulomatous disease
2. Human gene mutations affecting RNA processing and translation
3. 5 reductase gene leading to methemoglobinemia type 1
4. phox-deficient autosomal recessive chronic granulomatous disease
5. A fast and easy method to determine the production of reactive oxygen intermediates by human and murine phagocytes using dihydrorhodamine-1,2,3
6. A p47-phox pseudogene carries the most common mutation causing p47-phox-deficient chronic granulomatous disease
7. Heterogeneity in chronic granulomatous disease detected with an improved nitroblue tetrazolium slide test
8. Autosomal recessive chronic granulomatous disease caused by defects in NCF-1, the gene encoding the phagocyte p47-phox: Mutations not arising in the NCF-1 pseudogenes
9. Recombination events between the p47-phox gene and its highly homologous pseudogenes are the main cause of autosomal recessive chronic granulomatous disease
10. Diagnostic application of first trimester trophoblast sampling in 100 pregnancies
11. Mutational analysis of patients with p47-phox-deficient chronic granulomatous disease: The significance of recombination events between the p47-phox gene (NCF1) and its highly homologous pseudogenes
12. Inhibition of neutrophil NADPH oxidase assembly by a myristoylated pseudosubstrate of protein kinase C
13. Oxygen consumption of phagocytizing cells in human leukocyte and granulocyte preparations: A comparative study