[HTML][HTML] Kallmann syndrome

C Dodé, JP Hardelin - European Journal of Human Genetics, 2009 - nature.com
C Dodé, JP Hardelin
European Journal of Human Genetics, 2009nature.com
The Kallmann syndrome (KS) combines hypogonadotropic hypogonadism (HH) with
anosmia. This is a clinically and genetically heterogeneous disease. KAL1, encoding the
extracellular glycoprotein anosmin-1, is responsible for the X chromosome-linked recessive
form of the disease. Mutations in FGFR1 or FGF8, encoding fibroblast growth factor receptor-
1 and fibroblast growth factor-8, respectively, underlie an autosomal dominant form with
incomplete penetrance. Finally, mutations in PROKR2 and PROK2, encoding prokineticin …
Abstract
The Kallmann syndrome (KS) combines hypogonadotropic hypogonadism (HH) with anosmia. This is a clinically and genetically heterogeneous disease. KAL1, encoding the extracellular glycoprotein anosmin-1, is responsible for the X chromosome-linked recessive form of the disease. Mutations in FGFR1 or FGF8, encoding fibroblast growth factor receptor-1 and fibroblast growth factor-8, respectively, underlie an autosomal dominant form with incomplete penetrance. Finally, mutations in PROKR2 and PROK2, encoding prokineticin receptor-2 and prokineticin-2, have been found in heterozygous, homozygous, and compound heterozygous states. These two genes are likely to be involved both in monogenic recessive and digenic/oligogenic KS transmission modes. Notably, mutations in any of the above-mentioned KS genes have been found in less than 30% of the KS patients, which indicates that other genes involved in the disease remain to be discovered.
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