Permanent diabetes during the first year of life: multiple gene screening in 54 patients.

ABSTRACT:

Aims/hypothesis

The aim of this study was to investigate the genetic aetiology of permanent diabetes mellitus with onset in the first 12 months of age.

Methods

We studied 46 probands with permanent, insulin-requiring diabetes with onset within the first 6 months of life (permanent neonatal diabetes mellitus [PNDM]/monogenic diabetes of infancy [MDI]) (group 1) and eight participants with diabetes diagnosed between 7 and 12 months of age (group 2). KCNJ11, INS and ABCC8 genes were sequentially sequenced in all patients. For those who were negative in the initial screening, we examined ERN1, CHGA, CHGB and NKX6-1 genes and, in selected probands, CACNA1C, GCK, FOXP3, NEUROG3 and CDK4. The incidence rate for PNDM/MDI was calculated using a database of Italian patients collected

SUBMITTER: Russo L 

PROVIDER: S-EPMC3110270 | biostudies-literature | 2011 Jul

REPOSITORIES: biostudies-literature