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Communications
Dominantly inherited diabetes mellitus caused by GATA6 haploinsufficiency: variable intrafamilial presentation
  1. Tohru Yorifuji1,2,
  2. Rie Kawakita1,
  3. Yuki Hosokawa1,
  4. Rika Fujimaru1,
  5. Emi Yamaguchi2,
  6. Nobuyoshi Tamagawa2
  1. 1Department of Pediatric Endocrinology and Metabolism, Children's Medical Center, Osaka City General Hospital, Osaka, Japan
  2. 2Clinical Research Center, Osaka City General Hospital, Osaka, Japan
  1. Correspondence to Dr Tohru Yorifuji, Department of Pediatric Endocrinology and Metabolism, Children's Medical Center, Osaka City General Hospital, 2-13-22 Miyakojima-Hondori, Miyakojima, Osaka 534-0021, Japan; t-yorifuji{at}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.

  • Pancreas and biliary tract
  • Diabetes

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