[SLC2A2 gene analysis in three Chinese children with Fanconi-Bickel syndrome].
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.
Department of Pediatrics/Laboratory of Endocrinology, Ministry of Public Health, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China. zhengqingqiu33@aliyun.com.
Wei
W
Wang
Min
M
Wei
Hong-Mei
HM
Song
Zheng-Qing
ZQ
Qiu
Le-Jia
LJ
Zhang
Zhuo
Z
Li
Xiao-Yan
XY
Tang
D005198:Fanconi Syndrome / Q000235:genetics*; D005260:Female; D051273:Glucose Transporter Type 2 / Q000235:genetics*; D006801:Humans; D009154:Mutation
D051273:Glucose Transporter Type 2; C495680:SLC2A2 protein, human