3例Fanconi-Bickel综合征SLC2A2基因分析

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

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.970dup T(p.324Tyrfs X392),其中c.970dup T(p.324Tyrfs X392)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.970dup T(p.324Tyrfs X392)可能为世界首例FBS新生突变报道。

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.970 dup T（p.324 Tyrfs X392） 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.