Prevalence of human GH-1 gene alterations in patients with isolated growth hormone deficiency

Pediatric Research
J K WagnerPrimus E Mullis

Abstract

Human GH is encoded by the GH-1 gene which belongs to the GH gene cluster encompassing a distance of about 65 kb on the long arm of chromosome 17. Familial isolated growth hormone deficiency (IGHD) is associated with at least four Mendelian disorders. These include two forms that have autosomal recessive inheritance (IGHD types IA and IB) as well as autosomal dominant (IGHD type II) and X-linked (IGHD III) forms. The aim of our study was to evaluate the prevalence of all GH-1 gene alterations by sequencing the whole GH-1 gene after PCR amplification among 151 affected subjects from 83 families with severe IGHD (height: <-4.5 SD score). A high frequency of GH-1 gene alterations was found in families with IGHD type IA (8/12, 66.7%), whereas only a low frequency of GH-1 gene defects was present in all the other GH-deficient families (7/71, 9.9%). The absolute frequency of GH-1 gene deletions was 8.7% (6/69), 11.8% (4/34), and 18.7% (9/48) in Northern Europeans, Mediterraneans, and Asians, respectively, giving an overall frequency of 12.5% (19/151). The sizes of the deletions were heterogeneous with the most frequent (78%) being 6.7 kb. In addition, 6% (9/151) of the patients presented GH-1 gene mutations such as frameshift, stop c...Continue Reading

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Citations

May 7, 2009·The Journal of Clinical Endocrinology and Metabolism·Ali MohamadiRoberto Salvatori
Nov 9, 2019·The Journal of Clinical Endocrinology and Metabolism·Louise Cheryl Gregory, Mehul Tulsidas Dattani
Jul 2, 2009·The Journal of Clinical Endocrinology and Metabolism·Kyriaki S AlatzoglouMehul T Dattani
Mar 5, 2002·Molecular Endocrinology·Roberto SalvatoriMichael A Levine
Jan 24, 2014·Endocrine Reviews·Kyriaki S AlatzoglouMehul T Dattani
Apr 1, 2014·Endocrinology, Diabetes & Metabolism Case Reports·Anna CasteràsJordi Mesa
Jun 27, 2002·American Journal of Pharmacogenomics : Genomics-related Research in Drug Development and Clinical Practice·Gerhard Baumann
Mar 11, 2005·Indian Journal of Pediatrics·Joyce Lee, Ram K Menon
Feb 17, 2000·Trends in Endocrinology and Metabolism : TEM·A López-BermejoR G Rosenfeld
Mar 16, 2007·Growth Hormone & IGF Research : Official Journal of the Growth Hormone Research Society and the International IGF Research Society·Yoshitaka HayashiHisao Seo
Oct 27, 2009·Trends in Endocrinology and Metabolism : TEM·Christopher J RomeroSally Radovick

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