A novel nonsense mutation of the KAL1 gene (p.Trp204*) in Kallmann syndrome
Authors El Husny AS, Raiol-Moraes M, Fernandes-Caldato M, Ribeiro-dos-Santos Â
Received 18 March 2014
Accepted for publication 7 May 2014
Published 30 September 2014 Volume 2014:7 Pages 177—182
Checked for plagiarism Yes
Review by Single anonymous peer review
Peer reviewer comments 3
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
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