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目的报道国内首例NSD1基因区域缺失突变的Sotos综合征病例,并进行相关文献复习。方法 2012-09-07就诊于首都医科大学附属北京儿童医院神经内科门诊的1例Sotos综合征患儿,临床表现为生长发育较快(头围、身高、体重、骨龄等均明显高于同龄儿),特殊面容(高额头、眼距宽、额颞部毛发稀疏等),轻度智力发育迟缓。应用MLPA方法行基因检测分析。结果基因检测结果显示,患儿5号染色体长臂NSD1基因区域存在缺失突变,确诊为NSD1基因区域缺失突变的Sotos综合征。并文献复习国外基因检测确诊病例。结论 Sotos综合征发病率可能远高于目前报道,临床应提高认识和诊断水平。
Objective To report the first case of Sotos syndrome with the deletion of the first NSD1 gene in China and to review the relevant literature. Methods One patient with Sotos’s syndrome admitted to Department of Neurology, Beijing Children’s Hospital Affiliated to Capital Medical University, 2012-09-07 was clinically characterized by rapid growth and development (head circumference, height, weight, bone age, etc.) ), Special face (high forehead, wide eyes, frontotemporal hair sparse, etc.), mild mental retardation. Application MLPA method for gene detection and analysis. Results The results of gene test showed that there was a deletion mutation in the NSD1 gene region of long arm of chromosome 5 in children, and Sotos syndrome was diagnosed as NSD1 gene deletion mutation. And literature review of foreign gene test confirmed cases. Conclusion The incidence of Sotos syndrome may be much higher than the current report, clinical awareness should be increased and the level of diagnosis.