Mutation analysis of the STAT3 gene in a patient with hyper-IgE syndrome

Abstract

Objective To analyze mutations of the STAT3 gene in a patient with hyper-IgE syndrome (HIES) mainly manifesting as multiple cold abscesses. Methods Clinical data were collected and blood samples were obtained from a 17-year-old male patient with HIES and his parents. Genomic DNA was extracted and subjected to PCR for the amplification of the entire coding region and splice sites of the STAT3 gene followed by bidirectional sequencing. Results A heterozygous missense mutation C1427T, which caused a codon change from TCC to TTC and resulted in the substitution of serine by phenylalanine at amino acid residue 476 (p. S476F) , was found in exon 16 encoding the DNA-binding domain in the STAT3 gene in the patient, but not in either of his parents. The results of amplified ribosomal DNA restriction analysis were consistent with the findings mentioned above. Conclusion A novel missense mutation S426F was found in the STAT3 gene in the HIES patient with generalized cold abscesses as the prominent clinical manifestation. Key words: Job's syndrome; Abscess; STAT3 transcription factor; Mutation