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Mutations in FEZF1 cause Kallmann syndrome.

L Damla Kotan1, B Ian Hutchins2, Yusuf Ozkan3

  • 1Department of Biotechnology, Institute of Sciences, Cukurova University, 01330 Adana, Turkey.

American Journal of Human Genetics
|September 6, 2014
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Summary

Mutations in the FEZF1 gene disrupt the migration of gonadotropin-releasing hormone (GnRH) neurons into the brain, causing Kallmann syndrome (KS). This discovery highlights FEZF1's critical role in establishing the human reproductive axis.

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Area of Science:

  • Neuroscience
  • Genetics
  • Endocrinology

Background:

  • Gonadotropin-releasing hormone (GnRH) neurons originate in the olfactory placode and migrate to the hypothalamus to form the hypothalamic-pituitary-gonadal (HPG) axis.
  • Disrupted GnRH neuron migration causes Kallmann syndrome (KS), characterized by anosmia and hypogonadotropic hypogonadism.

Purpose of the Study:

  • To identify novel genes associated with Kallmann syndrome (KS).
  • To investigate the role of FEZF1 in GnRH neuron migration and HPG axis development in humans.

Main Methods:

  • Candidate-gene screening, autozygosity mapping, and whole-exome sequencing were performed on 30 individuals with KS.
  • Analysis focused on identifying homozygous loss-of-function mutations in potential candidate genes.

Main Results:

  • Homozygous loss-of-function mutations in the FEZF1 gene were identified in two independent consanguineous families affected by KS.
  • FEZF1 is essential for olfactory receptor neuron (ORN) axon penetration of the CNS basal lamina in mice, a pathway also used by GnRH neurons.

Conclusions:

  • FEZF1 is crucial for the central migration of GnRH neurons into the brain.
  • FEZF1 deficiency leads to impaired GnRH neuron entry, causing hypogonadotropic hypogonadism and Kallmann syndrome in humans.
  • This study establishes FEZF1 as a key gene for the establishment of the human HPG axis.