title: Fanconi- Bickel Syndrome: mutation in an Indian patient.
abstract: Fanconi -Bickel Syndrome (FBS) is described as an autosomal recessive Glycogen Storage Disorder type XI. The underlying enzyme defect is unknown. The gene GLUT2 maps to 3q26.1-q26.3; encodes a facultative glucose transporter gene. A 6-y-old girl presented with the characteristic facial gestalt, glucose and galactose intolerance, proximal renal tubular dysfunction, hepatomegaly, and altered liver function. To confirm the diagnosis, mutation analysis was performed. Patient showed homozygous mutation in exon 9 of GLUT2 gene 1093 C>T, the mutation causing transition from arginine to stop codon at position 365 and causing premature termination of protein. The mutation was found to be causative as previously described. To the best of authors' knowledge this is first Indian patient ever reported with a mutation. Genetic testing can be employed as a method of confirming diagnosis, especially where definitive mutation can be useful for prenatal diagnosis and prognostication.
authors.affiliation: Department of Clinical Genetics, Christian Medical College and Hospital, 5th Floor OT Block, Vellore, 632004, India.
authors.forename: Alka Venkatesh
authors.initials: AV
authors.lastname: Ekbote
authors.forename: Kausik
authors.initials: K
authors.lastname: Mandal
authors.forename: Indira
authors.initials: I
authors.lastname: Agarwal
authors.forename: Rajiv
authors.initials: R
authors.lastname: Sinha
authors.forename: Sumita
authors.initials: S
authors.lastname: Danda
mesh_terms: D002648:Child; D005198:Fanconi Syndrome / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D051273:Glucose Transporter Type 2 / Q000235:genetics*; D006801:Humans; D007194:India; D017354:Point Mutation
chemical_list: D051273:Glucose Transporter Type 2; C495680:SLC2A2 protein, human