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

L Russo1, D Iafusco, S Brescianini

  • 1Laboratory of Mendelian Diabetes, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.

Diabetologia
|May 6, 2011
PubMed

Insights

Genetic mutations cause most early-onset diabetes in infants diagnosed within six months. For infants diagnosed later, genetic causes are less common, suggesting other factors like autoimmune diabetes may be involved.

Area of Science:

  • Genetics
  • Endocrinology
  • Pediatrics

Background:

  • Permanent diabetes mellitus with onset in infancy is rare.
  • Genetic factors are increasingly recognized as a cause of early-onset diabetes.
  • Distinguishing monogenic forms from autoimmune diabetes is crucial for appropriate management.

Purpose of the Study:

  • To investigate the genetic basis of permanent diabetes mellitus presenting within the first 12 months of life.
  • To identify specific genes responsible for permanent neonatal diabetes mellitus (PNDM) and monogenic diabetes of infancy (MDI).

Main Methods:

  • Studied 46 infants with diabetes onset in the first 6 months (PNDM/MDI) and 8 with onset between 7-12 months.
  • Sequenced key genes including KCNJ11, INS, ABCC8, and others (ERN1, CHGA, CHGB, NKX6-1, CACNA1C, GCK, FOXP3, NEUROG3, CDK4).
  • Calculated the incidence rate of PNDM/MDI in Italy from 1995-2009.

Main Results:

  • Mutations in KCNJ11, INS, and ABCC8 genes were found in 50%, 19.5%, and 8.6% of infants with onset <6 months, respectively.
  • A homozygous GCK mutation was identified in 2.1% of infants with onset <6 months.
  • Only one KCNJ11 mutation was found in infants with onset 7-12 months; the incidence of PNDM/MDI in Italy is 1:210,287.

Conclusions:

  • Genetic mutations explain approximately 75% of PNDM/MDI cases diagnosed within the first 6 months.
  • The genetic yield decreases significantly (12%) for diabetes diagnosed between 7-12 months.
  • Infants with later-onset diabetes may have mutations in other genes or early-onset autoimmune diabetes.
Abstract

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