title: Non-rhizomelic and rhizomelic chondrodysplasia punctata within a single complementation group.
abstract: Several patients have been described recently who suffer from a non-rhizomelic type of chondrodysplasia punctata (CDP), but who show all the biochemical abnormalities characteristic of the rhizomelic form of chondrodysplasia punctata (RCDP), a peroxisomal disorder. We have used protease protection experiments and microinjection of reporter-protein-encoding expression plasmids to show that peroxisomal thiolase fails to be imported into peroxisomes in cells from non-rhizomelic CDP patients, as has already been found in cells from classical RCDP patients. Furthermore, complementation analysis after somatic cell fusion indicates that the non-rhizomelic CDP patients are impaired in the same gene as classical RCDP patients. We conclude that defects in a single gene can give rise to both clinical phenotypes.
authors.affiliation: Department of Biochemistry, E.C. Slater Institute, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: A M
authors.initials: AM
authors.lastname: Motley
authors.forename: H F
authors.initials: HF
authors.lastname: Tabak
authors.forename: J A
authors.initials: JA
authors.lastname: Smeitink
authors.forename: B T
authors.initials: BT
authors.lastname: Poll-The
authors.forename: P G
authors.initials: PG
authors.lastname: Barth
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
mesh_terms: D000101:Acetyl-CoA C-Acetyltransferase / Q000378:metabolism; D000217:Acyltransferases / Q000172:deficiency / Q000378:metabolism; D019883:Alkyl and Aryl Transferases; D001692:Biological Transport / Q000235:genetics; D002806:Chondrodysplasia Punctata / Q000235:genetics*; D018902:Chondrodysplasia Punctata, Rhizomelic / Q000235:genetics*; D005347:Fibroblasts / Q000201:enzymology / Q000648:ultrastructure; D005816:Genetic Complementation Test; D018740:Genetic Heterogeneity; D006801:Humans; D008830:Microbodies / Q000201:enzymology; D010641:Phenotype; D021382:Protein Sorting Signals / Q000378:metabolism; D011993:Recombinant Fusion Proteins / Q000378:metabolism; D014166:Transferases / Q000172:deficiency / Q000378:metabolism
chemical_list: D021382:Protein Sorting Signals; D011993:Recombinant Fusion Proteins; D014166:Transferases; D000217:Acyltransferases; C020051:glycerone-phosphate O-acyltransferase; D000101:Acetyl-CoA C-Acetyltransferase; D019883:Alkyl and Aryl Transferases; C019654:alkylglycerone-phosphate synthase