ArticleAmerican journal of human genetics2014
Mutations in FEZF1 cause Kallmann syndrome.
Article in American journal of human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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Who cites it
39 citing papers in PubMed, 77 citations in OpenAlex.
- Genetics of Idiopathic Hypogonadotropic HypogonadismJournal of clinical research in pediatric endocrinology · 2026Review
- Metabolic sexual dimorphism in hypothalamic Fezf1 neuron-specific BDNF knockout.Biology of sex differences · 2025Article
- Gene-by-Environment Interactions Involving Maternal Exposures with Orofacial Cleft Risk in Filipinos.Genes · 2025Article
- An optimized method for directed differentiation of hypothalamic neural stem cells in a 3D culture system.Scientific reports · 2025Article
- Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism - a clinical perspective.European journal of human genetics : EJHG · 2023Review
- Genetics of pubertal delay.Clinical endocrinology · 2022Review
- New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism.Archives of medical science : AMS · 2022Article
- Whole exome sequencing identifies deleterious rare variants in CCDC141 in familial self-limited delayed puberty.NPJ genomic medicine · 2021Article
- Cis-regulatory architecture of human ESC-derived hypothalamic neuron differentiation aids in variant-to-gene mapping of relevant complex traits.Nature communications · 2021Article
- The Differential Roles for Neurodevelopmental and Neuroendocrine Genes in Shaping GnRH Neuron Physiology and Deficiency.International journal of molecular sciences · 2021Review
- Article
- Genetics of hypogonadotropic hypogonadism.Translational andrology and urology · 2021Review
- Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease.Human genetics · 2021Review
- TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci.Human molecular genetics · 2020Article
- Characterization of the human GnRH neuron developmental transcriptome using aDisease models & mechanisms · 2020Article
- Some of the Factors Involved in Male Infertility: A Prospective Review.International journal of general medicine · 2020Review
- AGenes · 2019Article
- An RNAi Screen for Genes Required for Growth ofG3 (Bethesda, Md.) · 2019Article
- Next-generation sequencing refines the genetic architecture of Greek GnRH-deficient patients.Endocrine connections · 2019Article
- Nasal Placode Development, GnRH Neuronal Migration and Kallmann Syndrome.Frontiers in cell and developmental biology · 2019Article
Corrections and comments
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Authors and funding
13 authors at 4 institutions in 2 countries.
Funding
Abstract
Gonadotropin-releasing hormone (GnRH) neurons originate outside the CNS in the olfactory placode and migrate into the CNS, where they become integral components of the hypothalamic-pituitary-gonadal (HPG) axis. Disruption of this migration results in Kallmann syndrome (KS), which is characterized by anosmia and pubertal failure due to hypogonadotropic hypogonadism. Using candidate-gene screening, autozygosity mapping, and whole-exome sequencing in a cohort of 30 individuals with KS, we searched for genes newly associated with KS. We identified homozygous loss-of-function mutations in FEZF1 in two independent consanguineous families each with two affected siblings. The FEZF1 product is known to enable axons of olfactory receptor neurons (ORNs) to penetrate the CNS basal lamina in mice. Because a subset of axons in these tracks is the migratory pathway for GnRH neurons, in FEZF1 deficiency, GnRH neurons also fail to enter the brain. These results indicate that FEZF1 is required for establishment of the central component of the HPG axis in humans.
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