3例Fanconi-Bickel综合征SLC2A2基因分析

王薇; 魏珉; 宋红梅; 邱正庆; 张乐嘉; 李卓; 唐晓艳

doi:10.7499/j.issn.1008-8830.2015.04.014

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中国当代儿科杂志 ›› 2015, Vol. 17 ›› Issue (4) : 362-366. DOI: 10.7499/j.issn.1008-8830.2015.04.014

论著·临床研究

3例Fanconi-Bickel综合征SLC2A2基因分析

王薇, 魏珉, 宋红梅, 邱正庆, 张乐嘉, 李卓, 唐晓艳

作者信息 +

SLC2A2 gene analysis in three Chinese children with Fanconi-Bickel syndrome

WANG Wei, WEI Min, SONG Hong-Mei, QIU Zheng-Qing, ZHANG Le-Jia, LI Zhuo, TANG Xiao-Yan

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文章历史 +

摘要

Fanconi-Bickel 综合征(FBS, OMIM 227810)是一种常染色体隐性遗传的罕见糖代谢异常疾病,致病基因为SLC2A2。该文报道3 例经SLC2A2 基因分析确诊的FBS 病例。3 例患儿表现为典型的糖原累积症及近端肾小管功能障碍表现。基因测序显示1 例为纯合剪接突变IVS8+5G>C(c.1068+5 G>C);1 例为纯合无义突变c.1194T>A(p.Tyr398X);1 例为错义突变c.380C>A(p.Ala127Asp)和重复突变c.970dupT(p.324TyrfsX392),其中c.970dupT(p.324TyrfsX392)非经父母遗传,为新生突变。该4 种突变中,除IVS8+5G>C 外,其余3 种为中国人种FBS 新突变,而c.970dupT(p.324TyrfsX392)可能为世界首例FBS 新生突变报道。

Abstract

Fanconi-Bickel syndrome (FBS, OMIM 227810), a rare autosomal recessive disorder of carbohydrate metabolism, is caused by SLC2A2 (GLUT2) mutations. The study reported 3 cases of FBS who were confirmly diagnosed by SLC2A2 gene analysis. The three patients showed typical features like glycogen storage disease and proximal renal tubular nephropathy. Homozygous splice-site mutation IVS8+5G>C (c.1068+5 G>C) was found in patient A and homozygous nonsense mutation c.1194T>A (p.Tyr398X) in patient B. Patient C harboured a missense mutation c.380C>A (p.Ala127Asp) and a de novo insertion c.970dupT (p.324TyrfsX392) which was not inherited from her parents. Four mutations were identified in the 3 Chinese FBS patients. Except IVS8+5G>C mutation, the other 3 mutations were novel in Chinese population. To the best of our knowledge, patient C may be the first FBS case worldwide with de novo mutation.

导出引用

王薇, 魏珉, 宋红梅, 邱正庆, 张乐嘉, 李卓, 唐晓艳. 3例Fanconi-Bickel综合征SLC2A2基因分析[J]. 中国当代儿科杂志. 2015, 17(4): 362-366 https://doi.org/10.7499/j.issn.1008-8830.2015.04.014

WANG Wei, WEI Min, SONG Hong-Mei, QIU Zheng-Qing, ZHANG Le-Jia, LI Zhuo, TANG Xiao-Yan. SLC2A2 gene analysis in three Chinese children with Fanconi-Bickel syndrome[J]. Chinese Journal of Contemporary Pediatrics. 2015, 17(4): 362-366 https://doi.org/10.7499/j.issn.1008-8830.2015.04.014

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