title: Intron 2 [IVS2, T-C +4] HFE gene mutation associated with S65C causes alternative RNA splicing and is responsible for iron overload.
abstract: A patient with congenital liver fibrosis revealed a high transferrin saturation index and iron overload on liver biopsy. He did not carry the most frequent HFE mutations: C282Y or H63D. Heterozygosity was detected for S65C. Unknown HFE mutations were also sought using a combined denaturing high performance liquid chromatography (DHPLC)/direct sequence approach and another point mutation, a transition T-C (nt 4910), at the fourth base of the donor splice site of intron 2 [HFE, intervening sequence (IVS) 2, T-C +4] was found. Family screening revealed that a daughter carried both S65C and [IVS2, T-C +4].
  
  
  CONCLUSIONS
  : The existence in our proband of a partly-altered HFE protein in the region encoded by exon 2 might be responsible for the histologically-demonstrated iron overload.
authors.affiliation: Department of Surgical and Gastroenterological Sciences, University of Padova, via Giustiniani 2, 35128 Padova, Italy.
authors.forename: Annarosa
authors.initials: A
authors.lastname: Floreani
authors.forename: Filippo
authors.initials: F
authors.lastname: Navaglia
authors.forename: Daniela
authors.initials: D
authors.lastname: Basso
authors.forename: Carlo-Federico
authors.initials: CF
authors.lastname: Zambon
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Basso
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Germano
authors.forename: Erik Rosa
authors.initials: ER
authors.lastname: Rizzotto
authors.forename: Maria
authors.initials: M
authors.lastname: Guido
authors.forename: Mario
authors.initials: M
authors.lastname: Plebani