以“湿疹”为突出表现的Wiskott-Aldrich综合征患者WASP基因突变的检测

Mutation Analysis in a Patient with Wiskott-Aldrich Syndrome Prominently Manifested as “Eczema”

目的探讨1例以"湿疹"为突出表现的Wiskott-Aldrich综合征(Wiskott-Aldrich syndrome,WAS)患儿WASP基因突变。方法收集患儿的临床资料及外周血,提取基因组DNA,PCR扩增致病基因WASP基因外显子及剪切位点序列,通过DNA测序查找基因突变。结果发现患儿WASP基因第8号内含子存在一个剪切位点突变(IVS8+1g>a)。结论 IVS8+1g>a为WASP基因突变热点,本例患儿WAS诊断明确。本例提示,湿疹患儿如合并血小板减少症临床上需警惕WAS可能。

Objective To analyze WASP mutations in a patient with Wiskott-Aldrich syndrome （WAS） prominently manifested as ＂eczema＂. Methods Clinical data were collected and blood samples were obtained from a 9- year-old boy with WAS. Genomic DNA was extracted and subjected to PCR for the amplification of the entire encoding and splice sites of the WASP gene followed by bidirectional sequencing. Results The intron 8 splicing mutation （ IVS8 ＋ 1g 〉 a） of the WASP gene was detected. Conclusion IVS8 ＋ 1g 〉 a is one of the typical WASP mutational hotspots. The genetic test result of the patient confirmed the diagnosis of WAS. This case reminds us of WAS when we meet patients with both eczema and thrombopenia.