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Genomic DNA from 32 unrelated families with male-limited precocious puberty was examined for the previously described Asp-578--&gt;Gly, Met-571--&gt;Ile, and Thr-577--&gt;Ile mutations in transmembrane helix 6 of the human luteinizing hormone receptor (hLHR). Twenty-eight families had the inherited form of the disorder, and of these, 24 were found to have the Asp-578--&gt;Gly mutation. Four additional mutations were found among the remaining four families with the inherited form and in four sporadic cases of the disorder: an A--&gt;C transversion resulting in substitution of leucine for Ile-542 in the fifth transmembrane helix, an A--&gt;G transition resulting in substitution of glycine for Asp-564 in the third cytoplasmic loop, a G--&gt;T transversion resulting in substitution of tyrosine for Asp-578 in the sixth transmembrane helix, and a T--&gt;C transition resulting in substitution of arginine for Cys-581 in the sixth transmembrane helix. Human embryonic kidney cells transfected with cDNAs for each of the mutant hLHRs, created by PCR-based mutagenesis of the wild-type hLHR cDNA, exhibited increased levels of basal cAMP production in the absence of agonist, indicating constitutive activation of the mutation hLHRs. Three of the additional mutations had specific features: Ile-542--&gt;Leu and Cys-581--&gt;Arg appeared ligand-unresponsive, whereas Asp-578--&gt;Tyr appeared to correlate genotype with phenotype. We conclude that the region spanning nt 1624-1741 of exon 11 is a hotspot for heterogeneous point mutations that constitutively activate the hLHR and cause male-limited precocious puberty.

Genetic heterogeneity of constitutively activating mutations of the human luteinizing hormone receptor in familial male-limited precocious puberty.