Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus

Table 2 Genes associated with neonatal diabetes mellitus and abnormal pancreas development

Gene	Location	Inheritance	Clinical features	Reference
PDX1	13q12.1	Recessive	IUGR, Pancreatic agenesis, Permanent NDM, PI	[11]
PTF1A enhancer	10p12.2	Recessive	IUGR, Pancreatic agenesis, Permanent NDM, PI	[12]
PTF1A	10p12.2	Recessive	IUGR, Pancreatic agenesis, Permanent NDM, variable PI, Cerebellar hypoplasia/aplasia	[13]
RFX6	6q22.1	Recessive	IUGR, Annular/hypoplastic pancreas, Permanent NDM, Chronic diarrhea, Biliary and intestinal abnormalities	[14, 32–35]
HNF1B	17q21.3	Dominant	IUGR, Pancreas hypoplasia, Renal cysts	[15]
GATA4	8p23.1	Dominant	IUGR, Pancreatic hypoplasia/agenesis, Congenital heart defects, Developmental delay	[16]

Genes in addition to GATA6 associated with both isolated diabetes and extra-pancreatic features are described with key clinical features and mode of inheritance

ISSN: 1746-1596