Publication: Argl83His, a New Mutational “Hot-Spot” in the Growth Hormone (GH) Gene Causing Isolated GH Deficiency Type II
Issued Date
2000-01-01
Resource Type
ISSN
21910367
21911231
21911231
Other identifier(s)
2-s2.0-85025281014
Rights
Mahidol University
Rights Holder(s)
SCOPUS
Bibliographic Citation
International Journal on Disability and Human Development. Vol.1, No.3 (2000), 125-136
Suggested Citation
M. P. Wajnrajch, M. P. Wajnrajch, R. L. Leibel, J. M. Gertner, P. E. Mullis, J. Deladoey, J. D. Cogan, J. A. Phillips, S. Lekhakula, S. Kim, P. S. Dannies, P. Saenger, T. Moshang, Michael P. Wajnrajch Argl83His, a New Mutational “Hot-Spot” in the Growth Hormone (GH) Gene Causing Isolated GH Deficiency Type II. International Journal on Disability and Human Development. Vol.1, No.3 (2000), 125-136. doi:10.1515/IJDHD.2000.1.3.125 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/25950
Research Projects
Organizational Units
Authors
Journal Issue
Thesis
Title
Argl83His, a New Mutational “Hot-Spot” in the Growth Hormone (GH) Gene Causing Isolated GH Deficiency Type II
Other Contributor(s)
Abstract
Autosomal dominant familial isolated growth hormone (GH) deficiency (IGHD type II) is a rare cause of human GH deficiency. Virtually all reported instances have been due to mutations of the GH gene (GH1) donor splice site at the junction of exon 2 and intron 3 (intervening sequence 3, or IVS3). The biological mechanisms by which such mutations of a single allele result in a functional deficiency state (Le. dominantnegative effects on the normal allele) have not been elucidated. Here we report four unrelated families with IGHD type II caused by a novel missense transition mutation, G6664A, which replaces arginine at position 183 with histidine (ArgI83His, or R183H) in exon 5 of GH1. © 2000, by Walter de Gruyter GmbH & Co. All rights reserved.