Permanent neonatal diabetes in an Asian infant.
We describe a novel homozygous missense glucokinase mutation (R397L) resulting in insulin-treated neonatal diabetes in an infant from a consanguineous Asian family. Both parents were heterozygous for R397L and had mild hyperglycemia. Glucokinase mutations should be considered in infants of all ethnic groups with neonatal diabetes and consanguinity.
Porter
J R
JR
Birmingham Children's Hospital, Birmingham, UK. j.porter@bham.ac.uk
Shaw
N J
NJ
Barrett
T G
TG
Hattersley
A T
AT
Ellard
S
S
Gloyn
A L
AL
D044466:Asian People; D003241:Consanguinity; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D005260:Female; D005941:Glucokinase / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D020125:Mutation, Missense / Q000235:genetics*; D010154:Pakistan / Q000208:ethnology; D010375:Pedigree
D005941:Glucokinase