Identification of Cytochrome b-245, beta-chain gene mutations, and clinical presentations in Iranian patients with X-linked chronic granulomatous disease.

ABSTRACT:

Background

X-linked chronic granulomatous disease (X-CGD) is an immunodeficiency disorder caused by defects in the gp91^phox subunit that leads to life-threatening infections. We aimed to identify CYBB gene mutations and study clinical phenotypes in Iranian patients with probable X-CGD.

Methods

We studied four unrelated Iranian patients with probable X-CGD and their families recruited in several years. We isolated genomic DNA from whole blood and performed Sanger sequencing in the CYBB gene's coding and flanking regions. We also performed pathogenicity predictions using in silico tools.

Results

We detected four different mutations, including a novel insertion mutation in exon 5 (p.Ile117AsnfsX6), in the patient. Bioinformatics analysis confirmed the pathogen

SUBMITTER: Heydari A 

PROVIDER: S-EPMC7891530 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature