Dominantly inherited diabetes mellitus caused by GATA6 haploinsufficiency: variable intrafamilial presentation

J Med Genet. 2012 Oct;49(10):642-3. doi: 10.1136/jmedgenet-2012-101161. Epub 2012 Sep 7.

Abstract

GATA6 haploinsufficiency has recently been reported as the most frequent cause of neonatal diabetes with pancreatic agenesis. Although all previously reported cases represented a de novo mutation with complete agenesis or pronounced hypoplasia of the pancreas, in this study we identified a family with a dominantly inherited mutation. Unlike previously reported cases, the degree of pancreatic hypoplasia and the severity of diabetes varied among members of the family, ranging from neonatally lethal diabetes with only a remnant of pancreatic tissue to adult-onset diabetes associated with dorsal agenesis of the pancreas. These observations further broaden the clinical spectrum of diabetes associated with GATA6 haploinsufficiency.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Base Sequence
  • Child
  • Child, Preschool
  • Diabetes Mellitus / diagnosis
  • Diabetes Mellitus / genetics*
  • Exons
  • Fatal Outcome
  • Female
  • GATA6 Transcription Factor / genetics*
  • Genes, Dominant*
  • Genotype
  • Haploinsufficiency*
  • Humans
  • Male
  • Mutation
  • Pedigree
  • Phenotype
  • Young Adult

Substances

  • GATA6 Transcription Factor