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

[kallmann syndrome]

To describe a novel KAL 1 mutation in patients affected by Kallmann syndrome .Endocrinology Clinic of the João de Barros Barreto University Hospital - Federal University of Par á , Brazil .Clinical examination , hormone assays and sequencing of exons 5 , 6 and 9 of the KAL 1 gene in four Brazilian brothers with Kallmann syndrome .Detected a novel KAL 1 mutation , c .612 G .A /p .Trp 204 *, in four hemizygous brothers with Kallmann syndrome , and five heterozygous female family members .The novel p .Trp 204 * mutation of the KAL 1 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 .