Dominantly inherited diabetes mellitus caused by GATA6 haploinsufficiency: variable intrafamilial presentation. Issue 10 (7th September 2012)

• Record Type: Journal Article
• Authors: Yorifuji, Tohru; Kawakita, Rie; Hosokawa, Yuki; Fujimaru, Rika; Yamaguchi, Emi; Tamagawa, Nobuyoshi
• Is Part Of: Journal of medical genetics. Volume 49:Issue 10(2012)
• Page Start: 642
• Page End: 643
• Publication Date: 2012-09-07
• Subjects: Pancreas and biliary tract -- Diabetes; Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmedgenet-2012-101161
• Languages: English
• ISSNs: 1468-6244

Abstract

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.