Three novel mutations in CYBA among 22 Iranians with Chronic granulomatous disease

In this study, new genetic changes of CYBA gene in 22 Iranian patients with autosomal recessive‐CGD (AR‐CGD) were identified. Twenty‐two patients with CGD were referred to Immunology, Asthma and Allergy Research Institute (IAARI) and enrolled in this study based on defect in NADPH oxidase activity, demographic data and clinical histories. All patients had p22‐phox deficiency based on Western blotting. Genomic DNA was extracted from peripheral blood mononuclear cells (PBMCs), and PCR followed by direct sequencing was performed to find p22‐phox mutations. Mutation analysis of CYBA revealed 12 different mutations, including three novel mutations: one was deletion of exon 1, and two were point mutations in exon 3 (c.136G>A (p.Gly46Ser)), and exon 6 (c.388C>T (p.Gln130X)). Three new mutations of CYBA gene in four of 22 Iranian patients with AR‐CGD were found. These three novel mutations can partly complete the database of Human Gene Mutation Database (HGMD) and other related ones. It can also be helpful for further prenatal diagnosis in the affected families. Given that currently bone marrow transplantation is considered to be the curative treatment for patients with CGD, finding mutations will also be useful for timely decision‐making in bone marrow transplantation.
Source: International Journal of Immunogenetics - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research