Heterozygous GHR gene mutation in a child with idiopathic short stature.

Pagani, Sara; Petkovic, Vibor; Messini, Beatrice; Meazza, Cristina; Bozzola, Elena; Mullis, Primus-Eugen; Bozzola, Mauro (2014). Heterozygous GHR gene mutation in a child with idiopathic short stature. Journal of pediatric endocrinology & metabolism, 27(3-4), pp. 329-334. De Gruyter 10.1515/jpem-2013-0359

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Abstract 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.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > Unit Childrens Hospital > Forschungsgruppe Endokrinologie / Diabetologie / Metabolik (Pädiatrie)
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine

UniBE Contributor:

Petkovic, Vibor and Mullis, Primus-Eugen

Subjects:

600 Technology > 610 Medicine & health

ISSN:

0334-018X

Publisher:

De Gruyter

Language:

English

Submitter:

André Schaller

Date Deposited:

06 Oct 2014 14:22

Last Modified:

28 Oct 2019 13:45

Publisher DOI:

10.1515/jpem-2013-0359

PubMed ID:

24150201

BORIS DOI:

10.7892/boris.50241

URI:

https://boris.unibe.ch/id/eprint/50241

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