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

Evans, Bronwen Alice James ORCID: https://orcid.org/0000-0002-3082-1008, Bowen, Derrick John, Smith, P. J., Clayton, P. E. and Gregory, John Welbourn ORCID: https://orcid.org/0000-0001-5189-3812 1996. 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. Journal of Medical Genetics 33 (2) , pp. 143-147. 10.1136/jmg.33.2.143

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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

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > R Medicine (General)
Uncontrolled Keywords:	New LH receptor mutation
Publisher:	BMJ Journals
ISSN:	0022-2593
Last Modified:	04 Jan 2023 02:12
URI:	https://orca.cardiff.ac.uk/id/eprint/57204

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