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

Abstract

Antonette Souto El Husny,1 Milene Raiol-Moraes,1 Milena Coelho Fernandes-Caldato,2,3 Ândrea Ribeiro-dos-Santos1 1Laboratory of Human and Medical Genetics, Federal University of Pará, 2João de Barros Barreto University Hospital, Federal University of Pará, 3University Center of Pará, CESUPA, Belém, Pará, Brazil Objective: To describe a novel KAL1 mutation in patients affected by Kallmann syndrome. Setting: 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. 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. Keywords: Kallmann syndrome, KAL1 gene, anosmin-1, mutation