Abstract
Laron-type dwarfism (LTD) is an autosomal recessive disorder due to mutations in the GH receptor (GHR) gene. We report the case of a Sardinian boy affected by LTD in which we found by direct genomic sequencing a nonsense mutation in the fourth exon of the GHR gene (R43X) that determines a premature termination in the protein translation process. As the result of the absence of the extracellular portion of the GHR this patient had undetectable GH binding protein. This molecular defect is identical to that observed in other patients with LTD of mediterranean origin.
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This work was supported by grants from: Assessorato Igiene e Sanità Regione Sardegna, L.R. n. 11 30/04/1990; Campagna di Prevenzione delle Malattie Genetiche nella Popolazione Sarda, DGR 41/112 9/11/93; MURST (60% e 40% to A.C.); CNR — Progetto Finalizzato “Ingegneria Genetica”, Sottoprogetto “Diagnosi Molecolare della Talassemia Intermedia”, contratto n. 94.00018 pf 99.
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Putzolu, M., Meloni, A., Loche, S. et al. A homozygous nonsense mutation of the human growth hormone receptor gene in a Sardinian boy with Laron-type dwarfism. J Endocrinol Invest 20, 286–288 (1997). https://doi.org/10.1007/BF03350302
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DOI: https://doi.org/10.1007/BF03350302