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Article

Intellectual disability and hemizygous GPD2 mutation.

American journal of medical genetics. Part A - 1 May 2013

Barge-Schaapveld Daniela Q C M, Ofman Rob, Knegt Alida C, Alders Mariëlle, Höhne Wolfgang, Kemp Stephan, Hennekam Raoul C M

Abstract excerpt

We report on a 25-year-old female with intellectual disability, mildly unusual face, and a pervasive developmental disorder, in whom routine aCGH showed a 298 kb de novo deletion at chromosome 2q24.1(156869529-157167986 × 1). The region contained two genes (NR4A2; GPD2). Molecular studies in the proposita showed an additional variant in GPD2 (c.614C > T, p.Pro205Leu), which was predicted to be pathogenic. The...

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Source

Identifiers

PMID: 23554088
DOI: 10.1002/ajmg.a.35873

Genes

GPD2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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