D28G mutation in congenital glucose-galactose malabsorption.
BACKGROUND
Congenital glucose-galactose malabsorption is a rare autosomal recessive disorder of the intestinal transport of glucose and galactose, leading to watery diarrhea, dehydration, failure to thrive, and early death.


METHODS
In this study, we analyzed D28G mutation in 16 family members of a patient with typical presentation of congenital glucose-galactose malabsorption with polymerase chain reaction-Restriction Fragment Length Polymorphism method.


RESULTS
Nine members of this family were heterozygous for D28G mutation.


CONCLUSIONS
To the best of our knowledge this is the first report of D28G mutation in Iran. Moreover, this simple typical PCR-Restriction Fragment Length Polymorphism method, allows immediate identification of D28G mutation.
Kianifar
Hamid-Reza
HR
Department of Pediatrics, Mashhad University of Medical Sciences, Ghaem Medical Center, Ahmadabad Avenue, Mashhad, Iran. hr-kianifar@mums.ac.ir
Talebi
Saeed
S
Talebi
Saeed
S
Tavakkol-Afshari
Jalil
J
Esmaili
Mohammad
M
Davachi
Behrouz
B
Brook
Azam
A
D001224:Aspartic Acid / Q000235:genetics*; D005260:Female; D005690:Galactose / Q000378:metabolism*; D005947:Glucose / Q000378:metabolism*; D005998:Glycine / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008286:Malabsorption Syndromes / Q000151:congenital* / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D051269:Sodium-Glucose Transporter 1 / Q000235:genetics*
D051269:Sodium-Glucose Transporter 1; D001224:Aspartic Acid; D005947:Glucose; D005998:Glycine; D005690:Galactose