A Case of Isolated Growth Hormone (GH) Deficiency with Compound Heterozygous Abnormality at the GH-I Gene Locus

• DOI: 10.1515/jpem.1997.10.1.73
• Publication Date: 2011-04-14T12:47:03Z
• Authors: Y. Nishi; M. Ogawa; T. Kamijo; Y. Igarashi; N. Iwatani; H. Kohno; T. Masumura; Y. Byun; J. Koga
• Keywords: Male; Heterozygote; 0303 health sciences; 03 medical and health sciences; Base Sequence; Human Growth Hormone; Humans; DNA; Sequence Analysis, DNA; Child; Gene Deletion; Pedigree

We report a Japanese boy with IGHD who is a compound heterozygote at the GH-1 gene locus. The patient and his mother were heterozygous for a 6.7 kb deletion of the GH-1 gene. A T-->C transition at position -123, an A-->G transition at position -6 and an A-->T transition at position -1 in the GH-1 promoter region and the addition of AGAA at base 250 in intron I were observed in one allele of the patient and his father. These results demonstrate that familial IGHD is a heterogeneous disease that perturbs different steps in the expression of the GH-1 gene.