DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development.

doi:10.1093/hmg/ddx408

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Article

DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development.

Human molecular genetics - 15 Jan 2018

Bouilly Justine, Messina Andrea, Papadakis Georgios, Cassatella Daniele, Xu Cheng, Acierno James S, Tata Brooke, Sykiotis Gerasimos, Santini Sara, Sidis Yisrael, Elowe-Gruau Eglantine, Phan-Hug Franziska, Hauschild Michael, Bouloux Pierre-Marc, Quinton Richard, Lang-Muritano Mariarosaria, Favre Lucie, Marino Laura, Giacobini Paolo, Dwyer Andrew A, Niederländer Nicolas J, Pitteloud Nelly

Abstract excerpt

Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic disease characterized by absent puberty and infertility due to GnRH deficiency, and is often associated with anosmia [Kallmann syndrome (KS)]. The genetic etiology of CHH is heterogeneous, and more than 30 genes have been implicated in approximately 50% of patients with CHH. We hypothesized that genes encoding axon-guidance proteins containing...

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PMID: 29202173
DOI: 10.1093/hmg/ddx408

Genes

DCC
NTN1
ANOS1

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