Four different NCF2 mutations in six families from Turkey and an overview of NCF2 gene mutations

Abstract

The prevalence of NCF2 mutant families is approximately 15% in our series of 40 CGD families. This high incidence of A67 CGD in Turkey is undoubtedly caused by the high incidence of consanguineous marriages. We found three new mutations in NCF2 and one previously described. These are presented together with an overview of all NCF2 mutations now known.

Research update for articles published in EJCI in 2009

“…Our results were not parallel with European results [18]. The underlying aetiology seems to be the high incidence of consanguineous marriages, which favours homozygous deficiencies, in Turkish families with AR-CGD patients [17,19]. The late clinical presentation of p47-phox-defected patients may be underlying reason of relative high percentage of p22-phox and p67-phox defects in our series.…”

“…In our series of 50 different Turkish families, approximately 66% of them have AR-CGD and 35% of them have X-CGD. The underlying aetiology seems to be the high rate of consanguineous marriages, which favours homozygous deficiencies, in AR-CGD [17,19]. Approximately 30% of the families (half of the families with AR-CGD, in 15 families) have p22-phox defects, and the remaining families with AR-CGD have p47-phox or p67-phox defects.…”

“…Four different NCF2 mutations in six families from Turkey and an overview of NCF2 gene mutations [17] (Mustafa Yavuz Kö ker) In our series of 50 different Turkish families, approximately 66% of them have AR-CGD. Approximately 20% of the families (in 10 families) have p67-phox defects owing to mutant NCF2 gene, and the remaining 23 families with AR-CGD have p22-phox or p47-phox defects.…”

Three variants in the nicotinamide adenine dinucleotide phosphate oxidase complex are associated with HCV‐related liver damage

“…Missense and nonsense variants in NCF2 and NCF4 along with mutations in other NOX family members cause autosomal recessive chronic granulomatous disease. (29)(30)(31)(32)(33)(34) Missense variants in NCF2 have been linked to lupus (35) and very early onset inflammatory bowel disease, (36) and NCF2 gene expression is significantly elevated in patients with chronic rhinosinusitis who have Staphylococcus aureus infection and nasal polyps. (37) Several variants in NCF4 were identified as susceptibility factors for autoimmune diseases.…”

Advances in the diagnosis and treatment of chronic granulomatous disease

“…(2) In autosomal recessive CGD, for example in most patients with a p47phox defect [22], and sometimes also in patients with a p22phox [23,24] or a p67phox [25,26] defect. (3) In rare patients with complete myeloperoxidase (MPO) deficiency [27]: this is because the DHR test relies on endogeneous MPO [28].…”