涎酸贮积症一家系报告
发布时间：2019-02-19 13:04
【摘要】：目的探讨涎酸贮积症的临床特点及致病基因。方法回顾分析一家系涎酸贮积症的临床资料及基因检测结果。结果先证者为13岁女童,7岁时出现肢体疼痛,随后出现进行性视力下降及抽搐发作;有共济失调体征;眼底检查提示视神经萎缩;视诱发电位显示双眼P 100潜伏期明显延长。先证者哥哥有类似表现。应用PCR方法对NEU1基因的外显子及其外显子-内含子连接区域进行扩增,采用DNA直接测序对此基因行突变检测。发现先证者及其哥哥均携带NEU1基因c.239 CT(p.P 80 L)和c.544 AG(p.P 80 L)复合杂合突变,分别来自其表型正常母亲和父亲,均为已报道的致病突变。结论明确涎酸贮积症家系的NEU1基因致病突变。
[Abstract]:Objective to investigate the clinical features and pathogenic genes of sialic acid storage. Methods the clinical data and gene detection results of sialic acid storage disease in a family were retrospectively analyzed. Results the proband was a 13-year-old girl with limb pain at the age of 7, progressive visual acuity and convulsion, ataxia, optic nerve atrophy and prolonged latency of P100 in both eyes by visual evoked potential (VEP). The proband's brother showed similar behaviour. The exon of NEU1 gene and its exon-intron junction region were amplified by PCR method, and the mutation of the gene was detected by DNA direct sequencing. It was found that the proband and his brother were both carrying NEU1 gene c. 239 CT (p. P 80 L) and c. 544 AG (p. P 80 L) heterozygous mutations from their normal mothers and fathers, respectively, which were reported pathogenetic mutations. Conclusion the mutation of NEU1 gene in sialic acid storage family is clear.
【作者单位】： 北京大学第一医院儿科;
【分类号】：R725.9
[Abstract]:Objective to investigate the clinical features and pathogenic genes of sialic acid storage. Methods the clinical data and gene detection results of sialic acid storage disease in a family were retrospectively analyzed. Results the proband was a 13-year-old girl with limb pain at the age of 7, progressive visual acuity and convulsion, ataxia, optic nerve atrophy and prolonged latency of P100 in both eyes by visual evoked potential (VEP). The proband's brother showed similar behaviour. The exon of NEU1 gene and its exon-intron junction region were amplified by PCR method, and the mutation of the gene was detected by DNA direct sequencing. It was found that the proband and his brother were both carrying NEU1 gene c. 239 CT (p. P 80 L) and c. 544 AG (p. P 80 L) heterozygous mutations from their normal mothers and fathers, respectively, which were reported pathogenetic mutations. Conclusion the mutation of NEU1 gene in sialic acid storage family is clear.
【作者单位】： 北京大学第一医院儿科;
【分类号】：R725.9
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