Molecular Analysis of Isolated Growth Hormone Deficiency, Type 1A

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Previous studies have shown that isolated growth hormone deficiency, type 1A is invariably associated with complete deletion of the GH-1 gene. The purpose of this study is twofold : 1) to document a 4-year-old Japanese girl who, without GH-1 gene deletion, had a clinical phenotype identical to that of isolated growth hormone deficiency, type 1A. 2) to delineate the molecular defect of her abnormality by GH-1 gene RFLP linkage analysis and GH-1 gene sequence analysis.Results were summarized as follows : 1) There was no apparent linkage between Hinc II, Bgl II, and Msp I RFLP and her phenotype. 2) The 3.8 kb Bam HI and 25 kb Hind III fragments were found in the patient and all family members. 3) Her GH-1 gene was structurally intact by direct sequencing.These data indicate that her molecular defect does not reside in the GH-1 gene and that several genetic disorders other than GH-1 gene deletion or mutations are responsible for the phenotype of isolated growth hormone deficiency, type 1A.