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Article

Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3.

Human mutation - 1 Jan 2012

Itzkovitz Brandon, Jiralerspong Sarn, Nimmo Graeme, Loscalzo Melissa, Horovitz Dafne D G, Snowden Ann, Moser Ann, Steinberg Steve, Braverman Nancy

Abstract excerpt

Rhizomelic chondrodysplasia punctata (RCDP) is a disorder of peroxisome metabolism resulting from a deficiency of plasmalogens, a specialized class of membrane phospholipids. Classically, patients have a skeletal dysplasia and profound mental retardation, although milder phenotypes are increasingly being identified. It is commonly caused by defects in the peroxisome transporter, PEX7 (RCDP1), and less frequently...

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Source

Identifiers

PMID: 21990100
DOI: 10.1002/humu.21623

Genes

AGPS
GNPAT
PEX7

Provenance

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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Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3.PMID 21990100Read ↗

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Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctataSemantic proximity Read ↗

Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation.Semantic proximity Read ↗

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Expanding the genotypic and phenotypic landscapes of rhizomelic chondrodysplasia punctata type 3 (RCDP3) with two novel families, and a review of the literature.Semantic proximity Read ↗

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