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Nat Genet. 2003 Apr;33(4):463-5. Epub 2003 Mar 10.

Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.

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  • 1Institut Cochin et Laboratoire de Biochimie et Génétique Moléculaire, Hôpital Cochin, 75014 Paris, France.

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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  • A clinician's plea. [Nat Genet. 2003]
PMID:
12627230
[PubMed - indexed for MEDLINE]
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