New growth hormone receptor exon 9 mutation causes genetic short stature
| Autor: | M. R. Norman, Joëlle Finidori, Richard J. Ross, S. Von Laue, S. Moutoussamy, Peter E. Clayton, C. R. Buchanan, Ruth M Ayling, P. Towner |
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| Předmět: |
Male
Molecular Sequence Data Mutant Growth hormone receptor Biology Dominant-Negative Mutation medicine.disease_cause Polymerase Chain Reaction Exon medicine Growth Hormone Insensitivity Syndrome Humans Transversion Receptor Growth Disorders Genes Dominant Genetics Mutation Base Sequence Infant Newborn Receptors Somatotropin General Medicine Body Height Child Preschool Pediatrics Perinatology and Child Health Female |
| Zdroj: | Scopus-Elsevier University of Manchester-PURE Europe PubMed Central |
| Popis: | Ayling RM, Ross RJM, Towner P, Von Laue S, Finidori J, Moutoussamy S, Buchanan CR, Clayton PE, Norman MR. Acta Pa; diatr 1999; Suppl 428: 168–72. Stockholm. ISSN 0803–5326. A novel form of congenital growth hormone insensitivity syndrome (GHIS), which lacks the classic phenotype associated with this condition, is described. Dominant inheritance is shown to result from a heterozygous 876–1 G to C transversion of the 3′ splice acceptor site preceding exon 9 in the growth hormone receptor (GHR) gene. The result of this mutation is a severely truncated cytoplasmic domain of the GHR, which is incapable of transmitting a signal. The mutant receptor is shown to form a heterodimer with the wild-type GHR, the activity of which is inhibited in a dominant-negative manner. □Dominant-negative mutation, growth hormone receptor |
| Databáze: | OpenAIRE |
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