Table 1.

Clinical details

Variable	Patient ID
	1.1	1.2	1.3	1.4	2.1	2.2	3.1	4.1	5.1	6.1	7.1	8.1	9.1	9.2	10.1	10.2	11.1	12.1
Sex	Male	Female	Female	Female	Female	Male	Male	Male	Female	Male	Female	Female	Male	Male	Female	Male	Female	Male
Mutation
Nucleotide	c.-167G>T/c.-167G>T	c.-167G>T/c.-167G>T	c.-167G>T/c.-167G>T	c.-167G>T/c.-167G>T	c.-167G>T/c.422G>A	c.-167G>T/c.422G>A	c.-167G>T/c.470T>C	c.-167G>T/c.422G>A	c.-167G>T/c.422G>A	c.-167G>T/c.422G>A	c.-167G>T/c.422G>A	c.-167G>T/c.255+1G>A	c.-167G>T/c.620T>C	c.-167G>T/c.620T>C	c.-167G>T/c.470T>C	c.-167G>T/c.470T>C	c.-167G>T/c.470T>C	c.-167G>T/c.24del
Predicted protein	p.?/p.?	p.?/p.?	p.?/p.?	p.?/p.?	p.?/p.Arg141His	p.?/p.Arg141His	p.?/Phe157Ser	p.?/p.Arg141His	p.?/p.Arg141His	p.?/p.Arg141His	p.?/p.Arg141His	p.?/p.?	p.?/p.Phe207Ser	p.?/p.Phe207Ser	p.?/p.Phe157Ser	p.?/p.Phe157Ser	p.?/p.Phe157Ser	p.?/p.Leu8fsX
Hyperinsulinism
Birth weight, g	2880	3400	3000	3750	3850	3400	3325	2960	N/A	4200	4252	4500	3440	3450	N/A	3720	N/A	3160
Age at diagnosis,  mo	6	10	48	10	0	8	21	0	4	0	N/A	12	14	0	18	11	14	24
Treatment	None	None	None	None	Diazoxide	Diazoxide	Diazoxide	Diazoxide	N/A	Diazoxide	Diazoxide/cornstarch	N/A	Diazoxide	Diazoxide	N/A	N/A	Diazoxide	Diazoxide
Renal disease
Antenatal  abnormalities	Cysts/polyhydramnios	No	No	No	No	No	No	No	N/A	Cysts	N/A	N/A	Cysts	Cysts	N/A	N/A	No	No
Age at renal  diagnosis, mo	0	6	48	11	48	0	21	0	36	0	36	15	0	0	N/A	N/A	20	0
eGFR  at diagnosis,  ml/min per  1.73 m2	70	100	85	115	95	90	90	50	95	20	120	75	30	40	N/A	N/A	105	N/A
Kidney size,  percentile	>95th	>95th	>95th	>95th	>95th	>95th	>95th	>95th	>95th	>95th	>95th	>95th	N/A	N/A	N/A	N/A	>95th	>95th
Morphology	Cysts	Hyperechogenicity/cysts	Hyperechogenicity/cysts	Hyperechogenicity/cysts	Cysts	Cysts	Cysts	Cysts	Cysts	Cysts	Cysts	Cysts	Cysts	Cysts	Cysts	Cysts	Cysts	Cysts
Age at last f/u, yr	10	15	20	14	11	4	1	2	14	6	11	7	4	0.3	N/A	N/A	11	19
eGFR at last f/u,  ml/min per  1.73m2	70	90	<10 (18)	75	80	40	90	50	85	<10 (2)	141	40	65	70	N/A	N/A	94	<10 (7)
Liver disease
Morphology  (ultrasound)	Normal	Normal	Normal	Normal	Cysts	Cysts	Normal	Normal	Coarse echotexture	Cysts	Cysts	Normala	Normal	Normal	Cysts	N/A	Cysts	Cysts
Liver function  tests	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Normal	N/A	Normal	Normal	Normal	Normal	Normal	Normal	Normal	N/A	Normal

Shown are pertinent clinical data for the 17 patients. Note the presence of the PMM2 promoter mutation c.-167G>T in all patients. ID, identifier; N/A, not available; f/u, follow-up.

^aUltrasound imaging of the liver was normal, yet a biopsy revealed ductal plate malformation (see Figure 3).