Genetics and Molecular Biology
Print version ISSN 1415-4757
TRARBACH, Ericka Barbosa et al. Similar interstitial deletions of the KAL-1 gene in two Brazilian families with X-linked Kallmann Syndrome. Genet. Mol. Biol. [online]. 2004, vol.27, n.3, pp. 337-341. ISSN 1415-4757. http://dx.doi.org/10.1590/S1415-47572004000300006.
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.
Keywords : X-linked KS; intragenic deletions; KAL-1 gene; PCR; phenotypic variability.