Kallmann's syndrome with a novel missense mutation in the KAL1 gene that modifies the major cell adhesion site of the anosmin-1 protein.
J Pediatr Endocrinol Metab
; 18(6): 545-8, 2005 Jun.
Article
em En
| MEDLINE
| ID: mdl-16042321
ABSTRACT
Kallmann's syndrome (KS) refers to the association of hypogonadic hypogonadism and anosmia or hyposmia. The X-linked form of the disease is due to mutations in the KAL1 gene that encodes for the protein anosmin-1. We studied the KAL1 gene in a patient with KS and his family by PCR amplification and direct sequencing. A novel missense mutation (V263G) that modifies the major cell adhesion site of the anosmin-1 protein was identified. Our results suggest that this reported mutation is responsible for KS and might help to elucidate the function of an important area of the anosmin-1 protein.
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Base de dados:
MEDLINE
Assunto principal:
Proteínas da Matriz Extracelular
/
Síndrome de Kallmann
/
Mutação de Sentido Incorreto
/
Proteínas do Tecido Nervoso
Idioma:
En
Ano de publicação:
2005
Tipo de documento:
Article