. Author manuscript; available in PMC: 2016 Feb 17.

Published in final edited form as: Mol Genet Metab. 2014 Sep 28;113(4):315–320. doi: 10.1016/j.ymgme.2014.09.007

Table 2.

Summary of the 19 pathogenic sequences identified in this study.

Patient	Gender	Race- ethnicity	Gene	Reference Sequence	Nucleotide Change	Amino acid	Zygosity	Age at Diagnosis	Pharmacotherapy	Generations with Hyperglycemia
20	F	H	KCNJ11	NM_000525.3	c.602G>A	p.Arg201His	HET	6 months	Insulin^a	1
21	F	W	INS	NM_000207.2	c.94G>A	p.Gly32Ser	HET	9 months	Insulin	1
22	M	W	INS	NM_000207.2	c.188-31G>A	p.?	HET	10 months	Insulin	1
23	F	AS	KCNJ11	NM_000525.3	c.204G>C^{^}	p.Trp68Cys	HET	1.5 months	Insulin^a	1
24	M	W	ABCC8	NM_000352.3	c.3989-9G>A; c.4174T>G	p.?; p.Phe1392Val	HET; HET	6 months	Insulin^a	1
25	M	H	EIF2AK3	NM_004836	c.2758C>T^{^}	p.Gln920*	HOMO	3 months	Insulin	1
26	M	H	GCK	NM_000162.3	c.706G>A	p.Glu236Lys	HOMO	Birth	Insulin	1
27	M	W	HNF1A	NM_000545.5	c.391C>T	p.Arg131Trp	HET	10 years	Insulin^a	1
28	M	W	HNF1A	NM_000545.5	c.586A>G	p.Thr196Ala	HET	3 years	None	3
29	F	W	GCK	NM_000162.3	c.863+1G>A^{^}	p.?	HET	5 years	None	3
30	F	W	GCK	NM_000162.3	c.148del^{^}	p.His50Metfs*6	HET	11 years	Metformin^a	3
31	M	W	GCK	NM_000162.3	c.544G>A	p.Val182Met	HET	4 years	Insulin^a	1
32	M	W	GCK	NM_000162.3	c.616A>C	p.Thr260Pro	HET	17 years	None	3
33	M	W	GCK	NM_000162.3	c.626C>T	p.Thr209Met	HET	11 years	None	3
34	F	W	GCK	NM_000162.3	c.676G>A	p.Val226Met	HET	39 years	Metformin/Sitagliptin^a	2
35	F	W	GCK	NM_000162.3	c.689G>A^{^}	p.Cys230Tyr	HET	25 years	Metformin/Sitagliptin/Sulfonylurea^a	3
36	F	W	GCK	NM_000162.3	c.787T>C	p.Ser263Pro	HET	23 years	Metformin^a	3
37	M	H	GCK	NM_000162.3	c.1003delA	p.Val335Cysfs*18	HET	6 years	Metformin^a	4
38	M	AA	GCK	NM_000162.3	c.1112G>T	p.Cys371Phe	HET	8 years	None	4

Genetic results may allow transition to more appropriate drug therapy or discontinuation of drug therapy

^{^}

Novel to this study

AA- African American, AS-Asian, H- Hispanic of any race, W- White