Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus.

doi:10.1086/513609

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Article

Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus.

American journal of human genetics - 1 May 2007

Raymond F Lucy, Tarpey Patrick S, Edkins Sarah, Tofts Calli, O'Meara Sarah, Teague Jon, Butler Adam, Stevens Claire, Barthorpe Syd, Buck Gemma, Cole Jennifer, Dicks Ed, Gray Kristian, Halliday Kelly, Hills Katy, Hinton Jonathon, Jones David, Menzies Andrew, Perry Janet, Raine Keiran, Shepherd Rebecca, Small Alexandra, Varian Jennifer, Widaa Sara, Mallya Uma, Moon Jenny, Luo Ying, Shaw Marie, Boyle Jackie, Kerr Bronwyn, Turner Gillian, Quarrell Oliver, Cole Trevor, Easton Douglas F, Wooster Richard, Bobrow Martin, Schwartz Charles E, Gecz Jozef, Stratton Michael R, Futreal P Andrew

Abstract excerpt

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...

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Identifiers

PMID: 17436253
DOI: 10.1086/513609
PMCID: PMC1852737

Genes

ZDHHC9
HRAS
NRAS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17436253-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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