【摘要】：目的探討涎酸貯積癥的臨床特點(diǎn)及致病基因。方法回顧分析一家系涎酸貯積癥的臨床資料及基因檢測(cè)結(jié)果。結(jié)果先證者為13歲女童,7歲時(shí)出現(xiàn)肢體疼痛,隨后出現(xiàn)進(jìn)行性視力下降及抽搐發(fā)作;有共濟(jì)失調(diào)體征;眼底檢查提示視神經(jīng)萎縮;視誘發(fā)電位顯示雙眼P 100潛伏期明顯延長。先證者哥哥有類似表現(xiàn)。應(yīng)用PCR方法對(duì)NEU1基因的外顯子及其外顯子-內(nèi)含子連接區(qū)域進(jìn)行擴(kuò)增,采用DNA直接測(cè)序?qū)Υ嘶蛐型蛔儥z測(cè)。發(fā)現(xiàn)先證者及其哥哥均攜帶NEU1基因c.239 CT(p.P 80 L)和c.544 AG(p.P 80 L)復(fù)合雜合突變,分別來自其表型正常母親和父親,均為已報(bào)道的致病突變。結(jié)論明確涎酸貯積癥家系的NEU1基因致病突變。
[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.
【作者單位】： 北京大學(xué)第一醫(yī)院兒科;
【分類號(hào)】：R725.9

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