Similar interstitial deletions of the KAL-1 gene in two Brazilian families with X-linked Kallmann Syndrome
Trarbach, Ericka Barbosa; Monlleo, Isabella Lopes; Porciuncula, Carlos Guilherme Gaelzer; Fontes, Marshall Italo Barros; Baptista, Maria Teresa Mathias; Hackel, Christine.
Genet. mol. biol
; 27(3): 337-341, Sept. 2004. ilus, tab
Artículo
en Inglés
| LILACS | ID: lil-366177
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.
Biblioteca responsable:
BR26.1
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