The analysis of clinical manifestations and genetic mutations in childhood chronic granulomatous disease
10.3969/j.issn.1000-3606.2016.03.012
- VernacularTitle:儿童慢性肉芽肿病1例临床特征及基因突变分析
- Author:
Xi LU
;
Lirong JIANG
;
Jian WANG
- Publication Type:Journal Article
- Keywords:
chronic granulomatous disease;
CYBA mutations;
hepatic abnormalities;
child
- From:
Journal of Clinical Pediatrics
2016;34(3):204-207
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the pathogenesis and diagnosis of chronic granulomatous disease. Methods Clinical features and laboratory examination results of a child with chronic granulomatous disease were retrospectively analyzed. Genome DNA was extracted from peripheral blood of the child and his parents. The high-throughput sequencing was performed by Illumina sequencing platform, using the Agilent SureSelect exome capture method. Results The child had recurrent infections along with liver enlargement and dysfunction. The anti-infection and symptomatic treatment were unsatisfactory. Gene sequencing analysis revealed a homozygous point mutation (c.7C?>?T, p.Gln3*) in CYBA gene. His mother had the same heterozygous mutation in this locus, and his father had a large fragment heterozygous deletions. No other candidate gene mutations were identiifed. Conclusions The diagnosis of chronic granulomatous disease is conifrmed in this child. It is caused by CYBA gene mutation.
