A novel nonsense mutation of the KAL1 gene (p.Trp204*) in Kallmann syndrome.
Appl Clin Genet
; 7: 177-82, 2014.
Article
em En
| MEDLINE
| ID: mdl-25328414
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.
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Base de dados:
MEDLINE
Idioma:
En
Ano de publicação:
2014
Tipo de documento:
Article