Adolescent onset Type 2 diabetes in a non-obese Caucasian patient with an unbalanced translocation.
BACKGROUND
Childhood onset Type 2 diabetes in the UK has been reported in obese, insulin-resistant subjects. Investigation is necessary to exclude other aetiologies including genetic causes. The co-existence of diabetes and a chromosomal breakpoint may indicate the position of novel diabetes genes.


METHODS
We describe a novel unbalanced translocation between Xq and 10p associated with amenorrhoea and onset of Type 2 diabetes in a non-obese Caucasian adolescent. There was no evidence of an autoimmune or known genetic aetiology for the diabetes and the phenotype was not typical of youth-onset Type 2. We therefore hypothesize that the translocation is implicated in the aetiology of the diabetes. This is supported by previous reports of diabetes as a feature of Xq deletions and Turner's syndrome and linkage to the Xq region in a genome-wide scan for Type 2 genes.


CONCLUSIONS
That this region may harbour a gene predisposing to Type 2 diabetes and that cytogenetic studies may be useful in investigating diabetes in children and young adults.
Owen
K R
KR
Department of Diabetes and Vascular Medicine, Peninsula Medical School, Exeter, UK. k.r.owen@exeter.ac.uk
Roland
J
J
Smith
K
K
Hattersley
A T
AT
D000293:Adolescent; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics; D041321:Chromosomes, Human, X / Q000235:genetics; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping / Q000379:methods; D014178:Translocation, Genetic / Q000235:genetics*