| Literature DB >> 12627230 |
Catherine Dodé1, Jacqueline Levilliers, Jean-Michel Dupont, Anne De Paepe, Nathalie Le Dû, Nadia Soussi-Yanicostas, Roney S Coimbra, Sedigheh Delmaghani, Sylvie Compain-Nouaille, Françoise Baverel, Christophe Pêcheux, Dominique Le Tessier, Corinne Cruaud, Marc Delpech, Frank Speleman, Stefan Vermeulen, Andrea Amalfitano, Yvan Bachelot, Philippe Bouchard, Sylvie Cabrol, Jean-Claude Carel, Henriette Delemarre-van de Waal, Barbara Goulet-Salmon, Marie-Laure Kottler, Odile Richard, Franco Sanchez-Franco, Robert Saura, Jacques Young, Christine Petit, Jean-Pierre Hardelin.
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.Entities:
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Year: 2003 PMID： 12627230 DOI： 10.1038/ng1122
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330