title: Dominantly inherited diabetes mellitus caused by GATA6 haploinsufficiency: variable intrafamilial presentation.
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.
authors.affiliation: Department of Pediatric Endocrinology and Metabolism, Children's Medical Center, Osaka City General Hospital, Osaka, Japan. t-yorifuji@hospital.city.osaka.jp
authors.forename: Tohru
authors.initials: T
authors.lastname: Yorifuji
authors.forename: Rie
authors.initials: R
authors.lastname: Kawakita
authors.forename: Yuki
authors.initials: Y
authors.lastname: Hosokawa
authors.forename: Rika
authors.initials: R
authors.lastname: Fujimaru
authors.forename: Emi
authors.initials: E
authors.lastname: Yamaguchi
authors.forename: Nobuyoshi
authors.initials: N
authors.lastname: Tamagawa
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D003920:Diabetes Mellitus / Q000175:diagnosis / Q000235:genetics*; D005091:Exons; D017809:Fatal Outcome; D005260:Female; D050993:GATA6 Transcription Factor / Q000235:genetics*; D005799:Genes, Dominant; D005838:Genotype; D057895:Haploinsufficiency; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D055815:Young Adult
chemical_list: D050993:GATA6 Transcription Factor