Differential Effects of HNF-1α Mutations Associated with Familial Young-Onset Diabetes on Target Gene Regulation

Table 1 Clinical characteristics of probands and HNF1A mutations

Family	Age at diagnosis/actual age (years)	Patient sex	Body mass index (kg/m²)	Fasting plasma glucose (mmol/L)	OGTT^a (mmol/L)	HbA_1c (%)	Basal C-peptide (ng/mL)	Exon	Nucleotide change	Protein change	Affected family members	Treatment¹³
P37	20/22	Female	21	6.9	6.9	5.9	NA	1	c-57 to −64 delCACGCGGT;c-55G>C^c	None^c	S, F, 2 pU, pGM	Diet
P20	17/65	Male	24	10.2	NA	7.4	NA	2	c.397G>A	p.Val133Met	F, S, D	Glimepiride + metformin
P30	24/26	Female	20	7.9	17.5	9.6	1.9	2	c.586A>G	p.Thr196Ala	S^d	Repaglinide
P36	14/23	Female	22	14.2	NA	10.6	1.0	3	c.704A>G^c	p.Glu235Gly^c	M, S, mGM	Metformin + insulin
P52	17/20	Female	22	4.7	14.7	5.8	0.8	4	c.811C>T	p.Arg271Trp	M	Repaglinide
P56	34/35	Male	25	7.0	5.3	5.8	0.76	6	c.1136C>G	p.Pro379Arg	M, 4 mU, mGM	Diet

^aOGTT, plasma glucose at 120 min after a 75-g oral glucose tolerance test. Nucleotide numbering uses +1 as the A of the ATG initiation codon, on the basis of the GenBank sequence number NM_000543. F, father; M, mother; Sn, son; D, daughter; S, sister; pU, paternal uncle; mU, maternal uncle; pGM, paternal grandmother; mGM, maternal grandmother; NA, not analyzed. Underlined are those affected family members where mutation was checked by genotyping.
^bProband treatment at the time of genetic diagnosis.
^cNovel mutation.
^dDiabetic family member without mutation.

ISSN: 1528-3658