RGD Reference Report - 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. - Rat Genome Database

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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.

Authors: Evans, BA  Bowen, DJ  Smith, PJ  Clayton, PE  Gregory, JW 
Citation: Evans BA, etal., J Med Genet. 1996 Feb;33(2):143-7.
RGD ID: 1600291
Pubmed: PMID:8929952   (View Abstract at PubMed)
PMCID: PMC1051841   (View Article at PubMed Central)

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.



RGD Manual Disease Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
LHCGRHumangonadal disease susceptibilityIAGP DNA:transition: more ...RGD 
LhcgrRatgonadal disease susceptibilityISOLHCGR (Homo sapiens)DNA:transition: more ...RGD 
LhcgrMousegonadal disease susceptibilityISOLHCGR (Homo sapiens)DNA:transition: more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Lhcgr  (luteinizing hormone/choriogonadotropin receptor)

Genes (Mus musculus)
Lhcgr  (luteinizing hormone/choriogonadotropin receptor)

Genes (Homo sapiens)
LHCGR  (luteinizing hormone/choriogonadotropin receptor)


Additional Information