New growth hormone receptor exon 9 mutation causes genetic short stature

R. M. Ayling; Rjm Ross; P. Towner; S. Von Laue; J. Finidori; S. Moutoussamy; C. R. Buchanan; P. E. Clayton; M. R. Norman

New growth hormone receptor exon 9 mutation causes genetic short stature

R. M. Ayling, Rjm Ross, P. Towner, S. Von Laue, J. Finidori, S. Moutoussamy, C. R. Buchanan, P. E. Clayton, M. R. Norman^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	168-173
Number of pages	6
Journal	Acta Paediatrica. Supplement
Volume	88
Issue number	428
Publication status	Published - 1999

Keywords

Dominant-negative mutation
Growth hormone receptor

Cite this

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title = "New growth hormone receptor exon 9 mutation causes genetic short stature",

abstract = "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.",

keywords = "Dominant-negative mutation, Growth hormone receptor",

author = "Ayling, {R. M.} and Rjm Ross and P. Towner and {Von Laue}, S. and J. Finidori and S. Moutoussamy and Buchanan, {C. R.} and Clayton, {P. E.} and Norman, {M. R.}",

year = "1999",

language = "English",

volume = "88",

pages = "168--173",

journal = "Acta Paediatrica. Supplement",

issn = "0803-5326",

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TY - JOUR

T1 - New growth hormone receptor exon 9 mutation causes genetic short stature

AU - Ayling, R. M.

AU - Ross, Rjm

AU - Towner, P.

AU - Von Laue, S.

AU - Finidori, J.

AU - Moutoussamy, S.

AU - Buchanan, C. R.

AU - Clayton, P. E.

AU - Norman, M. R.

PY - 1999

Y1 - 1999

N2 - 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.

AB - 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.

KW - Dominant-negative mutation

KW - Growth hormone receptor

UR - http://www.scopus.com/inward/record.url?scp=0033015767&partnerID=8YFLogxK

M3 - Article

C2 - 10102075

SN - 0803-5326

VL - 88

SP - 168

EP - 173

JO - Acta Paediatrica. Supplement

JF - Acta Paediatrica. Supplement

IS - 428

ER -

New growth hormone receptor exon 9 mutation causes genetic short stature

Abstract

Keywords

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