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

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

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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Bibliographic Details
Main Authors: Trarbach,Ericka Barbosa, Monlleo,Isabella Lopes, Porciuncula,Carlos Guilherme Gaelzer, Fontes,Marshall Italo Barros, Baptista,Maria Teresa Mathias, Hackel,Christine
Format: Digital revista
Language:English
Published: Sociedade Brasileira de Genética 2004
Online Access:http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000300006
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