KEGG   VARIANT: 2798v1
Entry
2798v1                      Variant                                

Name
GNRHR mutation
Gene
GNRHR  gonadotropin releasing hormone receptor [KO:K04280]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 138850
Network
nt06323  KISS1-GnRH-LH/FSH-E2 signaling
nt06361  Hypogonadotropic hypogonadism
  Element
N00875  Mutation-inactivated GnRHR to GnRH-GnRHR-PLCB-PKC signaling pathway
Reference
  Authors
Cioppi F, Riera-Escamilla A, Manilall A, Guarducci E, Todisco T, Corona G, Colombo F, Bonomi M, Flanagan CA, Krausz C
  Title
Genetics of ncHH: from a peculiar inheritance of a novel GNRHR mutation to a comprehensive review of the literature.
  Journal
Andrology 7:88-101 (2019)
DOI:10.1111/andr.12563
Reference
  Authors
Kottler ML, Chauvin S, Lahlou N, Harris CE, Johnston CJ, Lagarde JP, Bouchard P, Farid NR, Counis R
  Title
A new compound heterozygous mutation of the gonadotropin-releasing hormone receptor (L314X, Q106R) in a woman with complete hypogonadotropic hypogonadism: chronic estrogen administration amplifies the gonadotropin defect.
  Journal
J Clin Endocrinol Metab 85:3002-8 (2000)
DOI:10.1210/jcem.85.9.6783
Reference
  Authors
Maya-Nunez G, Janovick JA, Ulloa-Aguirre A, Soderlund D, Conn PM, Mendez JP
  Title
Molecular basis of hypogonadotropic hypogonadism: restoration of mutant (E(90)K) GnRH receptor function by a deletion at a distant site.
  Journal
J Clin Endocrinol Metab 87:2144-9 (2002)
DOI:10.1210/jcem.87.5.8386
Reference
  Authors
Caron P, Chauvin S, Christin-Maitre S, Bennet A, Lahlou N, Counis R, Bouchard P, Kottler ML
  Title
Resistance of hypogonadic patients with mutated GnRH receptor genes to pulsatile GnRH administration.
  Journal
J Clin Endocrinol Metab 84:990-6 (1999)
DOI:10.1210/jcem.84.3.5518
Reference
  Authors
Costa EM, Bedecarrats GY, Mendonca BB, Arnhold IJ, Kaiser UB, Latronico AC
  Title
Two novel mutations in the gonadotropin-releasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction.
  Journal
J Clin Endocrinol Metab 86:2680-6 (2001)
DOI:10.1210/jcem.86.6.7551
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