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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

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

El Husny Antonette Souto AS Raiol-Moraes Milene M Fernandes-Caldato Milena Coelho MC Ribeiro-Dos-Santos Andrea A

The application of clinical genetics 20140930

<h4>Objective</h4>To describe a novel KAL1 mutation in patients affected by Kallmann syndrome.<h4>Setting</h4>Endocrinology Clinic of the João de Barros Barreto University Hospital - Federal University of Pará, Brazil.<h4>Methods</h4>Clinical examination, hormone assays and sequencing of exons 5, 6 and 9 of the KAL1 gene in four Brazilian brothers with Kallmann syndrome.<h4>Results</h4>Detected a novel KAL1 mutation, c.612G.A/p.Trp204*, in four hemizygous brothers with Kallmann syndrome, and fiv ...[more]

PMID: 25328414

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