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

Table 3 Phenotypic spectrum associated with GATA6 haploinsufficiency

Clinical features	Spectrum and severity	Patients with GATA6 mutation, N = 41 (%)
Pancreatic Features
Diabetes Mellitus	Neonatal/adult-onset	Total 40/41 (98), NDM 33/41 (81)^a, Child-onset 4/41 (10)^b, Adult-onset 3/41 (7)
Exocrine Insufficiency	Clinical/subclinical^d	Total 33/37 (89)^c, Clinical 30/37 (81)
Extra-Pancreatic Features
Cardiac	Isolated septal defect/multiple complex defects	36/41 (88)
Hepatobiliary	Gallbladder atresia, biliary atresia	13/41 (32)
Gastrointestinal	Umbilical hernia, diaphragmatic hernia, intestinal malrotation	8/41 (20)
Other Endocrine	Hypothyroidism, pituitary agenesis	7/41 (17)
Neurocognitive	Developmentally appropriate/mild learning difficulties/severe developmental delay	13/41 (32)
Genitourinary	Bicornuate uterus, hydronephrosis, hydroureter	2/41 (5)

Summary of the pancreatic and extra-pancreatic features of the published cases to date, demonstrating the variability of the phenotype [10, 19–21, 23–29]. ^aNDM group includes one case of transient NDM, ^bchildhood-onset group includes one case of impaired glucose tolerance in adolescence, ^cfour cases were excluded as no information on exocrine insufficiency was provided, ^dsubclinical was defined as low fecal elastase or positive fecal fat in the absence of clinical symptoms or need for pancreatic enzyme replacement

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