|Title||Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations.|
|Publication Type||Journal Article|
|Year of Publication||2017|
|Authors||Akkuş, G, Kotan, LDamla, Durmaz, E, Mengen, E, Turan, İ, Ulubay, A, Gürbüz, F, Yüksel, B, Tetiker, T, A Topaloğlu, K|
|Journal||J Clin Res Pediatr Endocrinol|
|Date Published||2017 Jun 01|
|Keywords||Adolescent, Adult, Family Health, Female, Genetic Predisposition to Disease, Genotype, Humans, Hypogonadism, Klinefelter Syndrome, Male, Mutation, Pedigree, Phenotype, Puberty, Delayed, Receptor, Fibroblast Growth Factor, Type 1, Young Adult|
OBJECTIVE: The underlying genetic etiology of hypogonadotropic hypogonadism (HH) is heterogeneous. Fibroblast growth factor signaling is pivotal in the ontogeny of gonadotropin-releasing hormone neurons. Loss-of-function mutations in FGFR1 gene cause variable HH phenotypes encompassing pubertal delay to idiopathic HH (IHH) or Kallmann syndrome (KS). As FGFR1 mutations are common, recognizing mutations and associated phenotypes may enhance clinical management.
METHODS: Using a candidate gene approach, we screened 52 IHH/KS patients.
RESULTS: We identified three novel (IVS3-1G>C and p.W2X, p.R209C) FGFR1 gene mutations. Despite predictive null protein function, patients from the novel mutation families had normosmic IHH without non-reproductive phenotype.
CONCLUSION: These findings further emphasize the great variability of FGFR1 mutation phenotypes in IHH/KS.
|Alternate Journal||J Clin Res Pediatr Endocrinol|
|PubMed Central ID||PMC5463295|
|Grant List||UM1 HG006504 / HG / NHGRI NIH HHS / United States|