title: Identification of constitutively activating mutation of the luteinising hormone receptor in a family with male limited gonadotrophin independent precocious puberty (testotoxicosis).
abstract: A family of male limited gonadotrophin independent precocious puberty was examined for activating mutation of the LH receptor. A transition of A to G in nucleotide 1733 of the human LH receptor gene was identified in all affected males and in an unaffected carrier female. The mutation was shown by identifying a new restriction site created by the mutation. This mutation appears to be a common feature of the disorder, as it has been reported previously in unrelated families. Therefore, the presence of this new restriction site can serve as a diagnostic tool in males at risk before the onset of symptoms, as well as identifying carrier females.
authors.affiliation: Department of Obstetrics/Gynecology, University of Michigan Medical Center, Ann Arbor, USA.
authors.forename: N
authors.initials: N
authors.lastname: Kawate
authors.forename: G B
authors.initials: GB
authors.lastname: Kletter
authors.forename: B E
authors.initials: BE
authors.lastname: Wilson
authors.forename: M L
authors.initials: ML
authors.lastname: Netzloff
authors.forename: K M
authors.initials: KM
authors.lastname: Menon
mesh_terms: D000262:Adenylyl Cyclases / Q000378:metabolism; D001483:Base Sequence; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004789:Enzyme Activation; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011629:Puberty, Precocious / Q000235:genetics*; D011974:Receptors, LH / Q000235:genetics* / Q000378:metabolism
chemical_list: D011974:Receptors, LH; D000262:Adenylyl Cyclases