Heterozygous GHR gene mutation in a child with idiopathic short stature

Sara Pagani, Vibor Petkovic, Beatrice Messini, Cristina Meazza, Elena Bozzola, Primus E. Mullis, Mauro Bozzola

Research output: Contribution to journalArticlepeer-review


Several monogenic defects have been reported to be associated with idiopathic short stature. Focusing on growth hormone receptor (GHR)-gene alterations, the heterozygosity of the same gene defect may be associated with a range of growth deficits. We found a heterozygous mutation (V144I) within exon 6 of the GHR gene in a patient with a low level of insulin-like growth factor I (IGFI), normal level of GH, and severe short stature. Despite the lack of statistical difference, an overall tendency for reduced wt-GH-induction of GHR activation and Jak/Stat signalling in cells transiently expressing GHR-V144I alone or co-expressing wt-GHR compared to cells expressing only wt-GHR was found when GH doses were increased. Our results suggest that, although GHR sequence variants are responsible for some functional alterations commonly observed in children with idiopathic short stature, these changes may not explain all the height deficits observed in these subjects.

Original languageEnglish
Pages (from-to)329-334
Number of pages6
JournalJournal of Pediatric Endocrinology and Metabolism
Issue number3-4
Publication statusPublished - Mar 1 2014


  • GH
  • GHR gene mutation
  • Idiopathic short stature
  • IGF-I

ASJC Scopus subject areas

  • Endocrinology
  • Endocrinology, Diabetes and Metabolism
  • Pediatrics, Perinatology, and Child Health

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