Neonatal diabetes and congenital malabsorptive diarrhea attributable to a novel mutation in the human neurogenin-3 gene coding sequence.

ABSTRACT:

Objective

The aim was to describe the clinical presentation and to characterize the genetic mutation present in a child with congenital malabsorptive diarrhea and neonatal diabetes.

Research design and methods

Clinical data were obtained from chart review. Histopathological characterization of intestinal samples and neurogenin-3 (NEUROG3) sequencing were performed. Expression and function of the mutated NEUROG3 protein were assessed by Western blot analysis and luciferase reporter assay.

Results

At birth, the proband was small for gestational age. She presented for evaluation with persistent diarrhea and a poor postnatal growth pattern. Although the pancreas was present, serum amylase and fecal elastase levels were decreased, and blood glucose levels were persistently

SUBMITTER: Pinney SE 

PROVIDER: S-EPMC3135203 | biostudies-literature | 2011 Jul

REPOSITORIES: biostudies-literature