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

C. Bingham, M. P. Bulman, S. Ellard, L. I S Allen, G. W. Lipkin, W. G. Van't Hoff, A. S. Woolf, G. Rizzoni, G. Novelli, A. J. Nicholls, A. T. Hattersley

Research output: Contribution to journalArticlepeer-review

Abstract

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)-1β have been associated with early-onset diabetes and nondiabetic renal disease - particularly renal cystic disease. We investigated a possible role for the HNF-1β 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-1β 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-1β mutations.

Original languageEnglish
Pages (from-to)219-224
Number of pages6
JournalAmerican Journal of Human Genetics
Volume68
Issue number1
DOIs
Publication statusPublished - 2001

ASJC Scopus subject areas

  • Genetics

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