Similar interstitial deletions of the KAL-1 gene in two Brazilian families with X-linked Kallmann Syndrome
Genet. mol. biol
; 27(3): 337-341, Sept. 2004. ilus, tab
Article
in English
| LILACS
| ID: lil-366177
Responsible library:
BR26.1
ABSTRACT
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.
Full text:
Available
Collection:
International databases
Database:
LILACS
Main subject:
Kallmann Syndrome
/
Gene Deletion
Limits:
Adult
/
Child
/
Female
/
Humans
/
Male
Country/Region as subject:
South America
/
Brazil
Language:
English
Journal:
Genet. mol. biol
Journal subject:
Genetics
Year:
2004
Document type:
Article
/
Project document
Affiliation country:
Brazil
Institution/Affiliation country:
Universidade Estadual de Campinas/BR
/
Universidade Federal de Alagoas/BR
/
Universidade de Ciências da Saúde de Alagoas,/BR
