Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/43463
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Type: Journal article
Title: Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a marfanoid habitus
Author: Raymond, F.
Tarpey, P.
Edkins, S.
Tofts, C.
O'Meara, S.
Teague, J.
Butler, A.
Stevens, C.
Barthorpe, S.
Buck, G.
Cole, J.
Dicks, E.
Gray, K.
Harrison, R.
Hills, K.
Hinton, J.
Jones, D.
Menzies, A.
Perry, J.
Raine, K.
et al.
Citation: American Journal of Human Genetics, 2007; 80(5):982-987
Publisher: Univ Chicago Press
Issue Date: 2007
ISSN: 0002-9297
1537-6605
Statement of
Responsibility: 
F. Lucy Raymond, Patrick S. Tarpey, Sarah Edkins, Calli Tofts, Sarah O’Meara, Jon Teague, Adam Butler, Claire Stevens, Syd Barthorpe, Gemma Buck, Jennifer Cole, Ed Dicks, Kristian Gray, Kelly Halliday, Katy Hills, Jonathon Hinton, David Jones, Andrew Menzies, Janet Perry, Keiran Raine, Rebecca Shepherd, Alexandra Small, Jennifer Varian, Sara Widaa, Uma Mallya, Jenny Moon, Ying Luo, Marie Shaw, Jackie Boyle, Bronwyn Kerr, Gillian Turner, Oliver Quarrell, Trevor Cole, Douglas F. Easton, Richard Wooster, Martin Bobrow, Charles E. Schwartz, Jozef Gecz, Michael R. Stratton, P. Andrew Futreal
Abstract: We have identified one frameshift mutation, one splice-site mutation, and two missense mutations in highly conserved residues in ZDHHC9 at Xq26.1 in 4 of 250 families with X-linked mental retardation (XLMR). In three of the families, the mental retardation phenotype is associated with a Marfanoid habitus, although none of the affected individuals meets the Ghent criteria for Marfan syndrome. ZDHHC9 is a palmitoyltransferase that catalyzes the posttranslational modification of NRAS and HRAS. The degree of palmitoylation determines the temporal and spatial location of these proteins in the plasma membrane and Golgi complex. The finding of mutations in ZDHHC9 suggests that alterations in the concentrations and cellular distribution of target proteins are sufficient to cause disease. This is the first XLMR gene to be reported that encodes a posttranslational modification enzyme, palmitoyltransferase. Furthermore, now that the first palmitoyltransferase that causes mental retardation has been identified, defects in other palmitoylation transferases become good candidates for causing other mental retardation syndromes.
Keywords: Humans; Marfan Syndrome; Mental Retardation, X-Linked; ras Proteins; Acyltransferases; DNA; Pedigree; Amino Acid Sequence; Base Sequence; Sequence Homology, Amino Acid; Phenotype; Mutation; Molecular Sequence Data; Female; Male
Rights: Copyright © 2007 The American Society of Human Genetics. All rights reserved.
RMID: 0020070668
DOI: 10.1086/513609
Published version: http://www.ajhg.org/AJHG/abstract/S0002-9297(07)60954-9
Appears in Collections:Paediatrics publications

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