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© 1993 Oxford University Press

OTHER

Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome

Serge Amselem, Philippe Duquesnoy, Bénédicte Duriez, Florence Dastot, Marie-Laure Sobrier, Sophie Valleix and Michel Goossens*

Laboratoire de Génétique Moléculaire, Institut National de la Santé et de la Recherche Médicale (INSERM) U.91, Hôpital Henri Mondor 94010 Cretéil, France

* To whom correspondence should be addressed

Received January 4, 1993; Revised February 16, 1993; Accepted February 16, 1993

Laron syndrome is a rare autosomal recessive disorder characterized by resistance to growth hormone (GH). In 10 patients of different ethnic origins, we have analyzed all the GH receptor (GHR)-coding exons along with their splice junctions and 6 intragenic polymorphic sites defining several GHR gene haplotypes. This allowed us to identify the mutations in the 20 chromosomes studied and to describe a new GHR haplotype. Eleven different mutations associated with various GHR haplotypes were observed; they included 3 nonsense mutations, 3 splice defects and 5 missense mutations. Of the 11 mutations, 8 were novel. All the mutations involved the exoplasmic domain of the receptor and all the missense mutations were clustered in a short polypeptide segment. Most of the missense mutations affected residues conserved among GHRs from different species and the related molecules that belong to the cytokine receptor superfamily. Adding to the 5 mutations so far described, these findings illustrate the allelic heterogeneity of this syndrome and document the independent origin of the molecular defects, all features of clinical relevance for genetic counselling.


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