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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--&gt;C transition at position -123, an A--&gt;G transition at position -6 and an A--&gt;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.

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