Mutations in the hepatocyte nuclear factor-1β gene are associated with familial hypoplastic glomerulocystic kidney disease

被引:208
|
作者
Bingham, C
Bulman, MP
Ellard, S
Allen, LIS
Lipkin, GW
van't Hoff, WG
Woolf, AS
Rizzoni, G
Novelli, G
Nicholls, AJ
Hattersley, AT
机构
[1] Univ Exeter, Sch Postgrad Med & Hlth Sci, Dept Vasc Med & Diabet Res, Exeter, Devon, England
[2] Queen Elizabeth Hosp, Dept Nephrol, Birmingham, W Midlands, England
[3] UCL, Inst Child Hlth, NephroUrol Unit, London WC1E 6BT, England
[4] Bambino Gesu Childrens Hosp & Res Inst, Div Nephrol & Dialysis, Rome, Italy
[5] Univ Roma Tor Vergata, Dipartimento Biopatol & Diagnost Immagini, Sez Genet, Rome, Italy
关键词
D O I
10.1086/316945
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Familial glomerulocystic kidney disease (GCKD) is a dominantly inherited condition characterized by glomerular cysts and variable renal size and function; the molecular genetic etiology is unknown. Mutations in the gene encoding hepatocyte nuclear factor (HNF)-1 beta have been associated with early-onset diabetes and nondiabetic renal disease-particularly renal cystic disease. We investigated a possible role for the HNF-1 beta gene in four unrelated GCKD families and identified mutations in two families: a nonsense mutation in exon 1 (E101X) and a frameshift mutation in exon 2 (P159fsdelT). The family members with HNF-1 beta gene mutations had hypoplastic GCKD and early-onset diabetes or impaired glucose tolerance. We conclude that there is genetic heterogeneity in familial GCKD and that the hypoplastic subtype is a part of the clinical spectrum of the renal cysts and diabetes syndrome that is associated with HNF-1 beta mutations.
引用
收藏
页码:219 / 224
页数:6
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