Pattern of inheritance in hereditary myeloperoxidase deficiency associated with the R569W missense mutation
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چکیده
منابع مشابه
Hereditary myeloperoxidase deficiency due to a missense mutation of arginine 569 to tryptophan.
Hereditary deficiency of myeloperoxidase (MPO) is a common disorder but its genetic basis is unknown. We have reported that neutrophils from individuals with MPO deficiency lack enzymatic and immunochemical evidence for mature MPO but have a 90-kDa precursor protein. We have thus hypothesized that hereditary MPO deficiency reflects a defect in processing of a mutated primary translation product...
متن کاملMyeloperoxidase (MPO) gene mutation in hereditary MPO deficiency.
Myeloperoxidase (MPO), present in the azurophilic granules of polymorphonuclear leukocytes, is a myeloid enzyme whose synthesis is restricted to promyelocytes. Complete hereditary MPO deficiency affects 1 in 2,000 to 4,000 individuals; however, the genetic cause of this defect is unclear. We have determined the molecular basis of MPO deficiency in one individual (SQ). Granulocytes of SQ had no ...
متن کاملHereditary myeloperoxidase deficiency.
Subjects with neutrophil myeloperoxidase (MPO) deficiency have been rarely reported. In part this may be due to the lack of a simple screening technique that would detect them. With the routine use of a cytochemical leukocyte differential counter that employs MPO stains, over a 40-mo a period 8 unrelated probands with partial MPO-deficiency and one with complete deficiency were identified. Fami...
متن کاملHereditary myeloperoxidase deficiency.
The functional properties of granulocytes in a diabetic patient deficient in myeloperoxidase (MPO) were compared with those of granulocytes in healthy subjects. The granulocytes of this patient had normal phagocytic activity. The microbicidal activity of the granulocytes was partially diminished with regard to Staphylococcus aureus and was almost nil with regard to Candida albicans. Fungicidal ...
متن کاملACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia
Objective To identify the clinical characteristics and genetic etiology of a family affected with hereditary spastic paraplegia (HSP). Methods Clinical, genetic, and functional analyses involving genome-wide linkage coupled to whole-exome sequencing in a consanguineous family with complicated HSP. Results A homozygous missense mutation was identified in the ACO2 gene (c.1240T>G p.Phe414Val)...
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ژورنال
عنوان ژورنال: Journal of Leukocyte Biology
سال: 1998
ISSN: 0741-5400
DOI: 10.1002/jlb.63.2.264