Genetics and Molecular Biology (Jan 2004)

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

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

DOI
https://doi.org/10.1590/S1415-47572004000300006
Journal volume & issue
Vol. 27, no. 3
pp. 337 – 341

Abstract

Read online

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