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Article

Expanding the clinical phenotype of patients with a ZDHHC9 mutation.

American journal of medical genetics. Part A - 1 Mar 2014

Masurel-Paulet Alice, Kalscheuer Vera M, Lebrun Nicolas, Hu Hao, Levy Fabienne, Thauvin-Robinet Christel, Darmency-Stamboul Véronique, El Chehadeh Salima, Thevenon Julien, Chancenotte Sophie, Ruffier-Bourdet Marie, Bonnet Marlène, Pinoit Jean-Michel, Huet Frédéric, Desportes Vincent, Chelly Jamel, Faivre Laurence

Abstract excerpt

In 2007, 250 families with X-linked intellectual disability (XLID) were screened for mutations in genes on the X-chromosome, and in 4 of these families, mutations in the ZDHHC9 gene were identified. The ID was either isolated or associated with a marfanoid habitus. ZDHHC9 encodes a palmitoyl transferase that catalyzes the posttranslational modification of NRAS and HRAS. Since this first description, no additional...

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Source

Identifiers

PMID: 24357419
DOI: 10.1002/ajmg.a.36348

Genes

ZDHHC9
HRAS
NRAS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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