No mutation in the SLC2A2 ( GLUT2) gene in a Turkish infant with Fanconi-Bickel syndrome.
Fanconi-Bickel syndrome (FBS), or glycogen storage disease type XI, is a rare, well-defined clinical entity. Recently, this disease was elucidated to link mutations in the SLC2A2 gene in many ethnic groups, indicating that FBS is a single gene disease. We report here an 8-month-old Turkish girl who developed characteristic findings of FBS. However, no mutation was detected in the protein-coding region of the SLC2A2 gene. Therefore, we propose that further molecular analysis is needed to determine whether other genes are involved in FBS.
Ozer
Esra Arun
EA
Pediatric Clinic, SSK Tepecik Teaching Hospital, Tepecik, Izmir, Turkey. eozer@deu.edu.tr
Aksu
Nejat
N
Uclar
Erkan
E
Erdogan
Hakan
H
Bakiler
Ali Rahmi
AR
Tsuda
Masahiko
M
Kitasawa
Emiko
E
Coker
Mahmut
M
Ozer
Erdener
E
D005260:Female; D051273:Glucose Transporter Type 2; D006008:Glycogen Storage Disease / Q000175:diagnosis / Q000178:diet therapy / Q000235:genetics*; D006801:Humans; D007223:Infant; D009004:Monosaccharide Transport Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010758:Phosphorus / Q000627:therapeutic use; D014807:Vitamin D / Q000627:therapeutic use
D051273:Glucose Transporter Type 2; D009004:Monosaccharide Transport Proteins; D014807:Vitamin D; D010758:Phosphorus