Horseshoe kidney malformation in Turner syndrome is not associated with HNF-1β gene mutations

Elena D'Amato, Giuseppe d'Annunzio, Valeria Calcaterra, Vera Morsellino, Daniela Larizza, Renata Lorini

Research output: Contribution to journalArticlepeer-review


Mutations in hepatocyte nuclear factor-1β (HNF-1β) gene cause a subtype of maturity-onset diabetes of the young (MODY5), whose clinical features are pancreatic β-cell dysfunction, renal malformations, and in some females, internal genital malformations. Recently, we reported the first case of MODY5 and horseshoe kidney. The patient was the only male in a three-generation family with five affected females carrying renal cysts or dysplastic kidney. Diabetes mellitus, horseshoe kidney, and X chromosome monosomy or mosaicism can be observed in Turner syndrome (TS). In particular, diabetes mellitus affects about 50% and horseshoe kidney occurs in approximately 16% of patients. To investigate whether mutations/polymorphisms of HNF-1β and X monosomy influence horseshoe kidney development, we evaluated HNF-1β gene sequence in 13 patients with TS and several kidney abnormalities. Analysis of the nine exons including intron - exon boundaries of HNF-1β revealed the presence in two subjects (15%) of a known intronic polymorphism, IV8+48insC. No specific variants were found. We conclude there is no direct relationship between horseshoe kidney in TS and mutation or polymorphism of HNF-1β gene, but we speculate that target gene(s) of HNF-1β, likely mapped on the X chromosome, is/are responsible of the horseshoe kidney formation in TS.

Original languageEnglish
Pages (from-to)137-140
Number of pages4
JournalPediatric Nephrology
Issue number1
Publication statusPublished - Jan 2008


  • Diabetes mellitus
  • HNF-1β polymorphism
  • Kidney abnormalities
  • MODY5
  • Xchromosome

ASJC Scopus subject areas

  • Nephrology
  • Pediatrics, Perinatology, and Child Health


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