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New growth hormone receptor exon 9 mutation causes genetic short stature |
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| Authors: | RM Ayling RJM Ross P Towner S Von Laue J Finidori S Moutoussamy CR Buchanan PE Clayton MR Norman |
| Affiliation: | Departments of Clinical Biochemistry;Molecular Medicine;and Child Health King's College School of Medicine and Dentistry, University of London, London, UK;Division of Clinical Sciences;University of Sheffield, Northern General Hospital, Sheffield, UK, INSERM Unité344;Facultéde Médecine Necker, Paris, France, Department of Child Health;University of Manchester, Manchester, UK, and Department of Medicine University of Bristol, Bristol, UK |
| Abstract: | 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 |
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