The analysis CYBB gene mutation and prenatal diagnosis in X-linked chronic granulomatous disease / 临床儿科杂志

ABSTRACT

Objective To analyze the clinical feature of X-linked chronic granulomatous disease (X-CGD) and gene mutation of CYBB. Method The clinical data of X-CGD in one child and the results of CYBB gene detection in his family were reviewed. Results This boy had onset in the neonatal period and presented with recurrent severe pulmonary infection as his main manifestation. Results of nitroblue tetrazolium test (NBT) in both non-stimulation group and LPS stimulation group in the child were 0, and neutrophil oxidation index (NOI) was 1.15. Gene analysis showed a deletion mutation in exon 6 of CYBB gene in the child (579-582delATTA), which resulted in frameshift mutation started from coding sequence of 189—isoleucine (I) and stop codon occured in advance in the 212th amino acid (I189fsX212). Both the child's mother and grandmother were carriers of the mutated gene. The same deletion mutation was not found in the CYBB gene in the amniocyte from the mother's next child. Conclusion One case of X-CGD patient with CYBB gene mutation and his families were diagnosed by gene detection. Prenatal diagnosis can avoid the birth of children with X-CGD.