Similar interstitial deletions of the KAL-1 gene in two Brazilian families with X-linked Kallmann Syndrome

AUTOR(ES)

Trarbach, Ericka Barbosa, Monlleo, Isabella Lopes, Porciuncula, Carlos Guilherme Gaelzer, Fontes, Marshall Italo Barros, Baptista, Maria Teresa Mathias, Hackel, Christine

FONTE

Genetics and Molecular Biology

DATA DE PUBLICAÇÃO

2004

RESUMO

Mutations in the KAL-1 gene localized at Xp22.3 have been shown to be responsible for the X-linked Kallmann syndrome (KS), a disorder characterized by the association of hypogonadotropic hypogonadism and anosmia. In this paper, we describe the investigation of two families with X-linked KS, in which similar interstitial deletions ning exons 5 to 10 of the KAL-1 gene were identified. The presence of interspersed repetitive DNA sequences within the KAL-1 gene might have predisposed to this type of mutation.

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