Article
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
Nature genetics - 1 Apr 2003
Dodé Catherine, Levilliers Jacqueline, Dupont Jean-Michel, De Paepe Anne, Le Dû Nathalie, Soussi-Yanicostas Nadia, Coimbra Roney S, Delmaghani Sedigheh, Compain-Nouaille Sylvie, Baverel Françoise, Pêcheux Christophe, Le Tessier Dominique, Cruaud Corinne, Delpech Marc, Speleman Frank, Vermeulen Stefan, Amalfitano Andrea, Bachelot Yvan, Bouchard Philippe, Cabrol Sylvie, Carel Jean-Claude, Delemarre-van de Waal Henriette, Goulet-Salmon Barbara, Kottler Marie-Laure, Richard Odile, Sanchez-Franco Franco, Saura Robert, Young Jacques, Petit Christine, Hardelin Jean-Pierre
Abstract excerpt
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...
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