title: Fanconi-Bickel syndrome versus osteogenesis imperfeeta: An Iranian case with a novel mutation in glucose transporter 2 gene, and review of literature.
abstract: Fanconi-Bickel syndrome is an extremely rare hereditary metabolic disease, characterized by hepatomegaly due to glycogen storage, refractory hypophosphatemic rickets, marked growth retardation and proximal renal tubular acidosis. Recurrent bone fractures are one of the hallmark findings. It is a single gene disorder; the responsible gene belongs to the facilitative glucose transporters 2 (GLUT2) family gene or (SLC2A2) mapped to the q26.1-26.3 locus on chromosome 3, and encodes the GLUT protein 2. This protein is expressed in pancreatic ί-cells, hepatocytes, renal tubules, and intestinal mucosa. Several mutations in the GLUT2 gene have been reported in different ethnicities. Herein we report an Iranian girl with a missed diagnosis of osteogenesis imperfecta. She was referred with the history of frequent fractures, and severe motor delay and was suspected to osteogenesis imperfecta. Following the case we detected refractory rickets instead of OI, sever growth failure, proximal renal tubulopathy and RTA, and enlarged kidneys, progressive hepatomegaly, and GSD on liver biopsy. Glucose and galactose tolerance tests confirmed abnormal carbohydrate metabolism. Molecular analysis on GLUT2 gene revealed a homozygous novel mutation in exon 5; it was 15 nucleotide deletion and 7 nucleotide insertion and caused a frame shift mutation, produced a premature truncated protein (P.A229QFsX19). This mutation has not been reported before in the relevant literature.
authors.affiliation: Department of Medical Genetics, Sarem Cell Research Center, Sarem Women Hospital, Tehran, Iran.
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Hadipour
authors.forename: Peymaneh
authors.initials: P
authors.lastname: Sarkheil
authors.forename: Mehrdad
authors.initials: M
authors.lastname: Noruzinia
authors.forename: Zahra
authors.initials: Z
authors.lastname: Hadipour
authors.forename: Taghi
authors.initials: T
authors.lastname: Baghdadi
authors.forename: Yousef
authors.initials: Y
authors.lastname: Shafeghati
keywords: Fanconi-Bickel syndrome; Iranian novel mutation; glucose transporter 2gene; missed diagnosis of osteogenesis imperfecta
references.citation: Pediatr Nephrol. 1995 Jun;9(3):287-91
references.pmid: 7632512
references.citation: Eur J Pediatr. 1998 Oct;157(10):783-97
references.pmid: 9809815
references.citation: Nat Genet. 1997 Nov;17(3):324-6
references.pmid: 9354798
references.citation: Pediatr Res. 2000 Nov;48(5):586-9
references.pmid: 11044475
references.citation: Pediatr Nephrol. 1987 Jul;1(3):509-18
references.pmid: 3153325
references.citation: Rev Int Hepatol. 1966;16(1):1-70
references.pmid: 5220030
references.citation: Proc Natl Acad Sci U S A. 1988 Aug;85(15):5434-8
references.pmid: 3399500
references.citation: Diabetes. 1993 May;42(5):773-7
references.pmid: 8482435
references.citation: Hum Genet. 2002 Jan;110(1):21-9
references.pmid: 11810292
references.citation: Curr Mol Med. 2002 Mar;2(2):213-27
references.pmid: 11949937