Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
Nat Genet
; 33(4): 463-5, 2003 Apr.
Article
en En
| MEDLINE
| ID: mdl-12627230
ABSTRACT
We took advantage of overlapping interstitial deletions at chromosome 8p11-p12 in two individuals with contiguous gene syndromes and defined an interval of roughly 540 kb associated with a dominant form of Kallmann syndrome, KAL2. We establish here that loss-of-function mutations in FGFR1 underlie KAL2 whereas a gain-of-function mutation in FGFR1 has been shown to cause a form of craniosynostosis. Moreover, we suggest that the KAL1 gene product, the extracellular matrix protein anosmin-1, is involved in FGF signaling and propose that the gender difference in anosmin-1 dosage (because KAL1 partially escapes X inactivation) explains the higher prevalence of the disease in males.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Proteínas de la Matriz Extracelular
/
Receptores de Factores de Crecimiento de Fibroblastos
/
Síndrome de Kallmann
/
Proteínas Tirosina Quinasas Receptoras
/
Mutación
Tipo de estudio:
Risk_factors_studies
Límite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Nat Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2003
Tipo del documento:
Article
País de afiliación:
Francia