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...
Topics
- Acyltransferases
- Alkyl and Aryl Transferases
- Base Sequence
- Cell Line
- Child
- Child, Preschool
- Chondrodysplasia Punctata, Rhizomelic
- DNA Mutational Analysis
- Female
- Genetic Association Studies
- Humans
- Male
- Molecular Sequence Data