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- Title
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
- Authors
Dode, Catherine; Levilliers, Jacqueline; Dupont, Jean-Michel; De Paepe, Anne; Le Du, Nathalie; Soussi-Yanicostas, Nadia; Coimbra, Roney S.; Delmaghani, Sedigheh; Compain-Nouaille, Sylvie; Baverel, Francoise; Pecheux, Christophe; Le Tessier, Dominique; Cruaud, Corinne; Delpech, Marc; Speleman, Frank; Vermeulen, Stefan; Amalfitano, Andrea; Bachelot, Yvan; Bouchard, Philippe
- 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 FGFR1underlie KAL2 whereas a gain-of-function mutation inFGFR1 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 (becauseKAL1 partially escapes X inactivation) explains the higher prevalence of the disease in males.
- Subjects
SYNDROMES; GENETIC disorders; GENETIC mutation; GENETICS
- Publication
Nature Genetics, 2003, Vol 33, Issue 4, p463
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/ng1122