Autosomal-dominant isolated growth hormone deficiency (IGHD type II) with normal GH-1 gene

Fintini, Danilo; Salvatori, Roberto; Salemi, Souzan; Otten, Barto; Ubertini, Graziamaria; Cambiaso, Paola; Mullis, Primus E (2006). Autosomal-dominant isolated growth hormone deficiency (IGHD type II) with normal GH-1 gene. Hormone research, 65(2), pp. 76-82. Basel: Karger 10.1159/000091033

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BACKGROUND: Autosomal-dominant isolated GH deficiency (IGHD) is a rare disorder that is commonly believed to be due to heterozygous mutations in the GH-1 gene (GH-1). These mutations cause the production of a protein that affects the release of the product of the normal allele. Rarely, heterozygous mutations in the gene encoding for HESX-1 gene (HESX-1) may cause autosomal-dominant IGHD, with penetrance that has been shown to be variable in both humans and mice. SUBJECTS AND METHODS: We have sequenced the whole GH-1 in the index cases of 30 families with autosomal-dominant IGHD. In all the families other possible causes of GH deficiency and other pituitary hormones deficits were excluded. We here describe the clinical, biochemical and radiological picture of the families without GH-1 mutations. In these families, we also sequenced the HESX-1. RESULTS: The index cases of the five families with autosomal-dominant IGHD had normal GH-1, including the intronic sequences. They had no HESX-1 mutations. CONCLUSION: This study shows that GH-1 mutations are absent in 5/30 (16.6%) of the families with autosomal-dominant IGHD and raises the possibility that mutations in other gene(s) may be involved in IGHD with this mode of transmission.

Item Type:

Journal Article (Original Article)


04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine

UniBE Contributor:

Mullis, Primus-Eugen










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Date Deposited:

04 Oct 2013 14:50

Last Modified:

06 Dec 2013 13:43

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URI: (FactScience: 4732)

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