title: A novel nonsense mutation of the KAL1 gene (p.Trp204*) in Kallmann syndrome.
abstract: OBJECTIVE
  To describe a novel KAL1 mutation in patients affected by Kallmann syndrome.
  
  
  METHODS
  Endocrinology Clinic of the João de Barros Barreto University Hospital - Federal University of Pará, Brazil.
  
  
  METHODS
  Clinical examination, hormone assays and sequencing of exons 5, 6 and 9 of the KAL1 gene in four Brazilian brothers with Kallmann syndrome.
  
  
  RESULTS
  Detected a novel KAL1 mutation, c.612G.A/p.Trp204*, in four hemizygous brothers with Kallmann syndrome, and five heterozygous female family members.
  
  
  CONCLUSIONS
  The novel p.Trp204* mutation of the KAL1 gene results in the production of a truncated anosmin-1 enzyme in patients with Kallmann syndrome. This finding broadens the spectrum of pathogenic mutations for this disease.
authors.affiliation: Laboratory of Human and Medical Genetics, Federal University of Pará, Brazil.
authors.forename: Antonette Souto
authors.initials: AS
authors.lastname: El Husny
authors.affiliation: Laboratory of Human and Medical Genetics, Federal University of Pará, Brazil.
authors.forename: Milene
authors.initials: M
authors.lastname: Raiol-Moraes
authors.affiliation: João de Barros Barreto University Hospital, Federal University of Pará, Brazil ; University Center of Pará, CESUPA, Belém, Pará, Brazil.
authors.forename: Milena Coelho
authors.initials: MC
authors.lastname: Fernandes-Caldato
authors.affiliation: Laboratory of Human and Medical Genetics, Federal University of Pará, Brazil.
authors.forename: Andrea
authors.initials: A
authors.lastname: Ribeiro-Dos-Santos
keywords: KAL1 gene; Kallmann syndrome; anosmin-1; mutation