摘要
目的分析一个家系Alport综合征的基因突变和临床表型特点。方法总结该家系的临床特点,采用外显子捕获-第二代测序技术对该家系所有患者的COL4A5,COL4A4和COL4A3基因进行突变检测。结果先证者及同胞姐均以血尿为主要首发症状,伴有不同程度的蛋白尿,肾功能均正常,肾活检电镜提示典型Alport综合征表现。但先证者出现的临床症状早于其姐,临床表型也更重,且已出现高频神经性耳聋及视力减退。其母为CKD III期,肾活检提示为FSGS。通过基因筛查发现家系中的2例患儿均携带COL4A5基因突变(p.Gly I32GIu),此突变来自其母。用SIFT和PolyPhen软件进行蛋白功能预测显示为致病性突变。结论本研究采用外显子捕获-第二代测序技术在一个Alport综合征家系中检测到COL4A5基因突变,基因型和临床表型的关系尚待进一步研究。
Objectives To analyze the clinical features and gene mutafiom of a Chinese family with Alport Syndrome.Methods The clinical and laboratory data of a Chinese family with Alport Syndrome were summarized.COL4A5,COL4A4 and COL4A3 genes were analyzed using next-generation sequencing.Results Prohand and his fellow sister presents a typical clinical picture with onset of microscopic hematuria and proteinuria.They had normal renal function.Ultrastructural analysis of renal biopsy was compatible with a diagnosis of AS.However,prohand manifestats earlier and severer clinical symptoms,including sensorineural hearing loss and ocular abnormalities than his sister.Their morther developed renal failure.A renal biopsy revealed focal segmental glomenilosclerosis.A Glyl32Glu mutation in COL4A5 was identified in the famiy.The mutation seemed to he pathogenic by the analysis using prediction software SIFT and PolyPhen.Conclusion Our study contributes to further study of pathogenesis of Alport syndrome,genetic counselling and prenatal diagnosis in Chinese population.
出处
《发育医学电子杂志》
2013年第1期42-45,共4页
Journal of Developmental Medicine (Electronic Version)
