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.

SUBMITTER: El Husny AS 

PROVIDER: S-EPMC4196791 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature