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.

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

Supplementary material

Table S1 Polymerase chain reaction primers used for amplification of KAL1 exons 5, 6 and 9, their annealing temperature and product size

Acknowledgments

The authors thank all of the patients and the Endocrinology team from João de Barros Barreto University Hospital – UFPA and the Genetics team from the Laboratory of Human and Medical Genetics – UFPA. Financial support was received from UFPA(PROPESP)/FADESP and CAPES.

Disclosure

The authors have no conflicts of interest in this work.