title: Horseshoe kidney malformation in Turner syndrome is not associated with HNF-1beta gene mutations.
abstract: Mutations in hepatocyte nuclear factor-1beta (HNF-1beta) gene cause a subtype of maturity-onset diabetes of the young (MODY5), whose clinical features are pancreatic beta-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-1beta and X monosomy influence horseshoe kidney development, we evaluated HNF-1beta gene sequence in 13 patients with TS and several kidney abnormalities. Analysis of the nine exons including intron-exon boundaries of HNF-1beta 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-1beta gene, but we speculate that target gene(s) of HNF-1beta, likely mapped on the X chromosome, is/are responsible of the horseshoe kidney formation in TS.
authors.affiliation: Department of Paediatrics, University of Genoa, IRCCS G. Gaslini Institute, Largo Gaslini 5, 16147 Genoa, Italy.
authors.forename: Elena
authors.initials: E
authors.lastname: D'Amato
authors.forename: Giuseppe
authors.initials: G
authors.lastname: d'Annunzio
authors.forename: Valeria
authors.initials: V
authors.lastname: Calcaterra
authors.forename: Vera
authors.initials: V
authors.lastname: Morsellino
authors.forename: Daniela
authors.initials: D
authors.lastname: Larizza
authors.forename: Renata
authors.initials: R
authors.lastname: Lorini
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D051539:Hepatocyte Nuclear Factor 1-beta / Q000235:genetics*; D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D009154:Mutation; D014424:Turner Syndrome / Q000235:genetics* / Q000473:pathology*
chemical_list: D051539:Hepatocyte Nuclear Factor 1-beta