A new point mutation in the luteinising hormone receptor gene in familial and sporadic male limited precocious puberty: Genotype does not always correlate with phenotype

B. A J Evans, D. J. Bowen, P. J. Smith, P. E. Clayton, J. W. Gregory

    Research output: Contribution to journalArticlepeer-review

    Abstract

    Genomic DNA from two families with male limited precocious puberty was examined for mutations of the LH receptor gene. In family 1, several members of the pedigree have FMPP, whereas in family 2 there is only one affected subject. A point mutation (T → C at nucleotide 1192) resulting in substitution of threonine for methionine 398 in the second transmembrane domain of the LH receptor protein was found in both families. In addition, one member of family 1 has the mutation, but no evidence of precocious puberty. All obligate carriers within this family were shown to have the mutation, and it was not detected in 94 chromosomes from unaffected and unrelated white subjects. In family 2, the index case was the only one to have the mutation. A previously unreported neutral dimorphism (C → T at nucleotide 1065) is also described.

    Original languageEnglish
    Pages (from-to)143-147
    Number of pages5
    JournalJournal of Medical Genetics
    Volume33
    Issue number2
    Publication statusPublished - 1996

    Keywords

    • New LH receptor mutation

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