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The molecular basis of inherited reproductive disorders

ABSTRACT:

The purpose of this study is to discover genetic mutations in patients who have GnRH deficient states. This includes individuals with variant forms of hypogonadotropic hypogonadism, including individuals who have somatic anomalies involving mid-line facial defects, renal agenesis, synkinesia, and ataxia, amongst others.

PROVIDER: phs000475.v1.p1 | EGA |

REPOSITORIES: EGA

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

Dodé Catherine C Levilliers Jacqueline J Dupont Jean-Michel JM De Paepe Anne A Le Dû Nathalie N Soussi-Yanicostas Nadia N Coimbra Roney S RS Delmaghani Sedigheh S Compain-Nouaille Sylvie S Baverel Françoise F Pêcheux Christophe C Le Tessier Dominique D Cruaud Corinne C Delpech Marc M Speleman Frank F Vermeulen Stefan S Amalfitano Andrea A Bachelot Yvan Y Bouchard Philippe P Cabrol Sylvie S Carel Jean-Claude JC Delemarre-van de Waal Henriette H Goulet-Salmon Barbara B Kottler Marie-Laure ML Richard Odile O Sanchez-Franco Franco F Saura Robert R Young Jacques J Petit Christine C Hardelin Jean-Pierre JP

Nature genetics 20030310 4

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 inv ...[more]

PMID: 12627230

Publication: 1/3

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