M. P. WajnrajchM. P. WajnrajchR. L. LeibelJ. M. GertnerP. E. MullisJ. DeladoeyJ. D. CoganJ. A. PhillipsS. LekhakulaS. KimP. S. DanniesP. SaengerT. MoshangMichael P. WajnrajchWeill Cornell Medical CollegeColumbia University, College of Physicians and SurgeonsEMD Serono, Inc.UniversitatsSpital BernVanderbilt UniversityMahidol UniversityYale UniversityAlbert Einstein College of Medicine of Yeshiva UniversityThe Children's Hospital of Philadelphia2018-09-072018-09-072000-01-01International Journal on Disability and Human Development. Vol.1, No.3 (2000), 125-13621910367219112312-s2.0-85025281014https://repository.li.mahidol.ac.th/handle/20.500.14594/25950Autosomal 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.Mahidol UniversityHealth ProfessionsMedicineNeuroscienceNursingArticleSCOPUS10.1515/IJDHD.2000.1.3.125