1. Academic Validation
  2. Dominantly inherited diabetes mellitus caused by GATA6 haploinsufficiency: variable intrafamilial presentation

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.
Tohru Yorifuji 1 Rie Kawakita Yuki Hosokawa Rika Fujimaru Emi Yamaguchi Nobuyoshi Tamagawa
Affiliations

Affiliation

  • 1 Department of Pediatric Endocrinology and Metabolism, Children's Medical Center, Osaka City General Hospital, Osaka, Japan. t-yorifuji@hospital.city.osaka.jp
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.

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