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Heterozygous GHR gene mutation in a child with idiopathic short stature

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

In: Journal of Pediatric Endocrinology and Metabolism, 2014, vol. 27, no. 3-4, p. 329-334

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    Titre
    • Heterozygous GHR gene mutation in a child with idiopathic short stature
    Auteur
    • Pagani, Sara. Internal Medicine and Therapeutics Department, University of Pavia, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
    • Petkovic, Vibor. Division of Pediatric Endocrinology, Diabetology and Metabolism, University Children's Hospital, Inselspital, Bern, Switzerland
    • Messini, Beatrice. U.O. Pediatrica, Ospedale di Foligno, Foligno, Italy
    • Meazza, Cristina. Internal Medicine and Therapeutics Department, University of Pavia, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
    • Bozzola, Elena. Department of Pediatric Medicine, IRCCS Pediatric Hospital Bambino Gesù, Rome, Italy
    • Mullis, Primus-E. Division of Pediatric Endocrinology, Diabetology and Metabolism, University Children's Hospital, Inselspital, Bern, Switzerland
    • Bozzola, Mauro. Internal Medicine and Therapeutics Department, University of Pavia, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
    Type de document
    • Postprint
    Langue
    • Inglese
    Publié dans
    • Journal of Pediatric Endocrinology and Metabolism, 2014, vol. 27, no. 3-4, p. 329-334. De Gruyter
    Autre version électronique
    Identifiant OAI-PMH
    • oai:doc.rero.ch:289432
    Summary
    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 (IGF-I), 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