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Original Paper

Autosomal-Dominant Isolated Growth Hormone Deficiency (IGHD Type II) with Normal GH-1 Gene

Fintini D.a · Salvatori R.a · Salemi S.b · Otten B.c · Ubertini G.M.d · Cambiaso P.d · Mullis P.-E.b

Author affiliations

aDivision of Endocrinology, Department of Medicine and the Ilyssa Center for Molecular and Cellular Endocrinology, The Johns Hopkins University School of Medicine, Baltimore, Md., USA; bDepartment of Pediatrics, Inselspital, University of Bern, Bern, Switzerland; cDepartment of Paediatric Endocrinology, University Medical Centre Nijmegen, Nijmegen, The Netherlands; dBambino Gesù Hospital and Research Institute, Rome, Italy

Related Articles for ""

Horm Res 2006;65:76–82

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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: January 12, 2005
Accepted: June 27, 2005
Published online: February 23, 2006
Issue release date: February 2006

Number of Print Pages: 7
Number of Figures: 1
Number of Tables: 2

ISSN: 1663-2818 (Print)
eISSN: 1663-2826 (Online)

For additional information: http://www.karger.com/HRP

Abstract

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.

© 2006 S. Karger AG, Basel


Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: January 12, 2005
Accepted: June 27, 2005
Published online: February 23, 2006
Issue release date: February 2006

Number of Print Pages: 7
Number of Figures: 1
Number of Tables: 2

ISSN: 1663-2818 (Print)
eISSN: 1663-2826 (Online)

For additional information: http://www.karger.com/HRP


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