CAJ | 학술논문

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。
Fanconi-Bickel 종합정（FBS, OMIM 227810）시일충상염색체은성유전적한견당대사이상질병，치병기인위SLC2A2。해문보도3례경SLC2A2기인분석학진적FBS병례。3례환인표현위전형적당원루적증급근단신소관공능장애표현。기인측서현시1례위순합전접돌변IVS8+5G>C（c.1068+5 G>C）；1례위순합무의돌변c.1194T>A（p.Tyr398X）；1례위착의돌변c.380C>A（p.Ala127Asp）화중복돌변c.970dupT（p.324TyrfsX392），기중c.970dupT（p.324TyrfsX392）비경부모유전，위신생돌변。해4충돌변중，제IVS8+5G>C외，기여3충위중국인충FBS신돌변，이c.970dupT（p.324TyrfsX392）가능위세계수례FBS신생돌변보도。
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 identiifed 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 ifrst FBS case worldwide with de novo mutation.