CAJ | 학술논문

目的探讨1例以全身多发冷脓肿为主要表现的高IgE综合征患者STAT3基因突变.方法收集患者及其父母的临床资料及外周血,提取基因组DNA,PCR扩增STAT3基因外显子与剪切位点序列,通过DNA测序查找基因突变.结果发现患者STAT3基因第16号外显子存在一个错义突变1427C→T,导致密码子由TCC变为TTC,致使位于STAT3蛋白DNA连接区第476位氨基酸从丝氨酸(S)变为苯丙氨酸(F)(p.S476F).患者父母均未发现此突变.酶切分析的结果与上述发现一致.结论 STAT3基因S476F突变为新型错义突变,该例高IgE综合征患者以全身广泛冷脓肿为突出表现.
목적 탐토1례이전신다발랭농종위주요표현적고IgE종합정환자STAT3기인돌변.방법 수집환자급기부모적림상자료급외주혈,제취기인조DNA,PCR확증STAT3기인외현자여전절위점서렬,통과DNA측서사조기인돌변.결과 발현환자STAT3기인제16호외현자존재일개착의돌변1427C→T,도치밀마자유TCC변위TTC,치사위우STAT3단백DNA련접구제476위안기산종사안산(S)변위분병안산(F)(p.S476F).환자부모균미발현차돌변.매절분석적결과여상술발현일치.결론 STAT3기인S476F돌변위신형착의돌변,해례고IgE종합정환자이전신엄범랭농종위돌출표현.
Objective To analyze mutations of the STAT3 gene in a patient with hyper-IgE svudrome (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.