A case of Kallmann syndrome associated to a novel missense mutation of the FGFR1 gene

A case of Kallmann syndrome associated to a novel missense mutation of the FGFR1 gene

Authors

  • Maria Scavone Unit of Pediatric, University “Magna Graecia” of Catanzaro, Catanzaro, Italy
  • Paola Chiarello Unit of Pediatric, “Pugliese-Ciaccio” Hospital of Catanzaro, Catanzaro, Italy
  • Valentina Talarico Unit of Pediatric, “Pugliese-Ciaccio” Hospital of Catanzaro, Catanzaro, Italy
  • Italia Mascaro Unit of Neonatology, “Pugliese-Ciaccio” Hospital of Catanzaro, Catanzaro, Italy
  • Claudia Caglioti Unit of Pediatric, “Pugliese-Ciaccio” Hospital of Catanzaro, Catanzaro, Italy
  • Maria Concetta Galati Unit of Pediatric Oncohematology, “Pugliese-Ciaccio” Hospital of Catanzaro, Catanzaro, Italy
  • Giuseppe Raiola Unit of Pediatric, “Pugliese-Ciaccio” Hospital of Catanzaro, Catanzaro, Italy

Keywords:

Kallman syndrome, mutation, FGFR1 gene

Abstract

Background: Loss-of-function mutations of fibroblast growth factor receptor 1 gene (FGFR1) have been reported so far. These mutations have been described in the extracellular domain, consisting of three Ig-like domains in the single transmembrane helix and in the intracellular region, containing a tyrosine kinase domain and cause about 10% of all cases of Kallmann syndrome. FRGR1 mutations could be associated with non reproductive phenotype such as cleft palate and dental agenesis and a wide spectrum of reproductive phenotype. Case Report: The patient, 17 years and 11 months old, was a Bulgarian male referred to our Pediatric Endocrinology Unit for pubertal failure and hyposmia. Clinical evaluation revealed a highpitched voice, gynecomastia and obesity. Hormonal study revealed hypogonadotropic hypogonadism. Molecular analysis, performed by Next Generation Sequencing and confirmed by Sanger sequencing, led to the identification of a novel and previously undescribed mutation c.1058 C>G (p. S353C) in heterozygous state on exon 8 of the FGFR1 gene. Conclusion: The novel mutation, that we found in a boy with Kallman syndrome, could destabilize the D3 immunoglobulin like receptor domain that is crucial for the FGF-FGFR interaction. (www.actabiomedica.it)

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Published

23-12-2019

Issue

Section

CASE REPORTS

How to Cite

1.
Scavone M, Chiarello P, Talarico V, Mascaro I, Caglioti C, Galati MC, et al. A case of Kallmann syndrome associated to a novel missense mutation of the FGFR1 gene. Acta Biomed [Internet]. 2019 Dec. 23 [cited 2024 Jul. 19];90(4):577-9. Available from: https://mattioli1885journals.com/index.php/actabiomedica/article/view/7170