A novel nonsense mutation of the KAL1 gene (p. Trp204*) in Kallmann syndrome

Objective: To describe a novel KAL1 mutation in patients affected by Kallmann syndrome. Setting: Endocrinology Clinic of the Joao de Barros Barreto University Hospital - Federal University of Para, 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. Conclusion: 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.