A Novel Nonsense Mutation Of The Kal1 Gene (p.t...

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A Novel Nonsense Mutation Of The Kal1 Gene (p.trp204*) In Kallmann Syndrome
Author: Antonette Souto El Husny, Milene Raiol-moraes, Milena Coelho Fernandes-caldato, Ândrea Ribeiro-dos-santos
Publisher: Derivative Works
6 pages
One time payment: €0.00
Required subscription: Free
Type of publication: Article
ISBN/ISSN: 1178-704X
DOI: 10.2147/TACG.S64280
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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.

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