Table 3

Clinical characteristics of the 13 previously unreported HNF-1β mutation positive probands and their relatives

				Primary renal disease			Diabetes			Other features
Family number	ID	HNF-1βmutation	Present age,years	Primary renal disease	Age at diagnosis,years	Renal failure	Diabetes	Age of diagnosis,years	Treatment	Details
FJHN, familial juvenile hyperuricaemic nephropathy; GCKD, glomerulocystic kidney disease; NI, not investigated; OHA, oral hypoglycaemic agents; RC, renal cysts; RD, renal dysplasia; RI, renal impairment (raised creatinine levels); SK, single kidney; US, ultrasound.
DUK1094	I:I	V61G	14	SK	3	N	N	–	–	Single ovary
										and hemi-uterus
DUK739	II:I	V110G	9	GCKD	6.5	N	N	–	–	Autoimmune
										thyroid disease
DUK1285	II:I	S148L	13	RD	Birth	N	Y	13	Insulin	N
DUK671	II:I	K156E	8	RC	Antenatal US	Y	Y	–	–	N
DUK1080	I:I	Q176X	29	RC	–	N	N	–	–	N
DUK1080	II:I	Q176X	8	RC	–	N	N	–	–	N
DUK1080	II:II	Q176X	1	RC	–	N	N	–	–	N
DUK859	II:II	R181X	37	RC	–	N	Y	28	Insulin	N
DUK859	III:I	R181X	8	RC	–	N	N	–	–	N
DUK859	III:II	R181X	6	RC	–	N	N	–	–	N
DUK859	III:IIII	R181X	2	RC	–	N	N	–	–	N
DUK971	I:II	IVS2nt+1G>A	62	FJHN	–	Y	Y	57	OHA	Gout
DUK971	II:I	IVS2nt+1G>A	38	FJHN	–	N	N	–	–	Gout
DUK971	II:II	IVS2nt+1G>A	23	NI	–	NI	NI	–	–	NI
DUK1208	I:I	IVS2nt+2delAAGT	–	GCKD	7	N	N	–	–	N
DUK802	II:I	R276Q	15	RC	–	N	Y		Insulin	N
DUK802	II:II	R276Q	–	RC	–	N	Y		Insulin	N
DUK1027	I:I	S281fsinsC	34	RC	–	N	Y	20	Insulin	N
DUK1027	II:I	S281fsinsC	2	RC	–	N	N	–	–	N
DUK1027	II:II	S281fsinsC	4	RC	–	N	N	–	–	N
DUK972	II:I	R295P	52	RC	39	N	Y	21	Insulin	Breast cancer
DUK952	I:I	H324S325fsdelCA	31	RC	–	N	N	–	–	N
DUK952	II:I	H324S325fsdelCA	2	RC	Birth	N	N	–	–	N
DUK950	I:I	Q470X	30	RI	30	N	N	–	–	N
DUK950	II:I	Q470X	3	RC	Birth	N	N	–	–	N