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    Argl83His, a New Mutational “Hot-Spot” in the Growth Hormone (GH) Gene Causing Isolated GH Deficiency Type II
    (2000-01-01) 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; Weill Cornell Medical College; Columbia University, College of Physicians and Surgeons; EMD Serono, Inc.; UniversitatsSpital Bern; Vanderbilt University; Mahidol University; Yale University; Albert Einstein College of Medicine of Yeshiva University; The Children's Hospital of Philadelphia
    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.