ArticleAmerican journal of human genetics2020
Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism.
Article in American journal of human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 51 citations in OpenAlex.
- Genetics of Idiopathic Hypogonadotropic HypogonadismJournal of clinical research in pediatric endocrinology · 2026Review
- Transcriptome analysis in osteoarthritis primary tissues identifies high-confidence effector genes.Nature communications · 2026Article
- Nematode extracellular protein interactome expands connections between signaling pathways.Cell genomics · 2026Article
- Modulation of stress and neuroplasticity biomarkers via rhythmic vocalization: a controlled study on NDNF, cortisol, and monoamines.BMC neuroscience · 2026Article
- A Novel HemizygousCase reports in endocrinology · 2026Article
- Clinical and genetic basis of congenital gonadotropin deficiency.Human reproduction open · 2026Article
- Neurotrophic Control of Puberty: From Molecular Signaling to Disorders of Pubertal Timing.Current issues in molecular biology · 2025Review
- Novel compound heterozygous NDNF variants in congenital hypogonadotropic hypogonadism: insights into genotype-phenotype correlation and infertility.Molecular biology reports · 2025Article
- Neuron-derived neurotrophic factor and its biological functions: a review study.Molecular biology reports · 2025Review
- Genetic variation and molecular profiling of congenital malformations of the female genital tract based on whole-genome sequencing.World journal of pediatrics : WJP · 2024Article
- Nematode Extracellular Protein Interactome Expands Connections between Signaling Pathways.bioRxiv : the preprint server for biology · 2024Article
- Mini-Puberty, Physiological and Disordered: Consequences, and Potential for Therapeutic Replacement.Endocrine reviews · 2024Review
- Cerebrospinal fluid proteomic signatures are associated with symptom severity of first-episode psychosis.Journal of psychiatric research · 2024Article
- Intrathecal delivery of AAV-NDNF ameliorates disease progression of ALS mice.Molecular therapy : the journal of the American Society of Gene Therapy · 2023Article
- Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism - a clinical perspective.European journal of human genetics : EJHG · 2023Review
- Opportunities and challenges for the use of common controls in sequencing studies.Nature reviews. Genetics · 2022Review
- Article
- Genetics of pubertal delay.Clinical endocrinology · 2022Review
- Hormone supply to the pituitary gland: A comprehensive investigation of female‑related tumors (Review).International journal of molecular medicine · 2022Review
- FGF8-FGFR1 signaling regulates human GnRH neuron differentiation in a time- and dose-dependent manner.Disease models & mechanisms · 2022Article
Corrections and comments
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Authors and funding
22 authors at 6 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic disorder characterized by infertility and the absence of puberty. Defects in GnRH neuron migration or altered GnRH secretion and/or action lead to a severe gonadotropin-releasing hormone (GnRH) deficiency. Given the close developmental association of GnRH neurons with the olfactory primary axons, CHH is often associated with anosmia or hyposmia, in which case it is defined as Kallmann syndrome (KS). The genetics of CHH are heterogeneous, and >40 genes are involved either alone or in combination. Several CHH-related genes controlling GnRH ontogeny encode proteins containing fibronectin-3 (FN3) domains, which are important for brain and neural development. Therefore, we hypothesized that defects in other FN3-superfamily genes would underlie CHH. Next-generation sequencing was performed for 240 CHH unrelated probands and filtered for rare, protein-truncating variants (PTVs) in FN3-superfamily genes. Compared to gnomAD controls the CHH cohort was statistically enriched for PTVs in neuron-derived neurotrophic factor (NDNF) (p = 1.40 × 10
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.