Rhizomelic chondrodysplasia punctata

Definition

Rhizomelic chondrodysplasia punctata (RCDP) is a lethal autosomal recessive disease associated with impaired peroxisomes characterized by proximal limb shortening, severely disturbed endochondrial bone formation, and mental retardation. RCDP1 is peroxisome biogenesis disorder caused by mutation of peroxisomal biogenesis factor 7(PEX7) genes. RCDP2 and RCDP3 are single peroxisomal enzyme deficiencies caused by mutation of GNPAT and AGPS. Both of them are key enzymes in the biosynthesis of ether phospholipids localized in peroxisomes.

References:

[1]. J M Powers, et al. Normal and defective neuronal membranes: structure and function: neuronal lesions in peroxisomal disorders. J Mol Neurosci. 2001 Apr-Jun;16(2-3):285-7; discussion 317-21. [Content Brief]

[2]. P E Purdue, et al. Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: a minireview. Neurochem Res. 1999 Apr;24(4):581-6. [Content Brief]

[3]. R J A Wanders, et al. Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. Clin Genet. 2005 Feb;67(2):107-33. [Content Brief]

[4]. S J Gould, et al. Peroxisome biogenesis disorders: genetics and cell biology. Trends Genet. 2000 Aug;16(8):340-5. [Content Brief]

[5]. Steven J Steinberg, et al. Peroxisome biogenesis disorders. Biochim Biophys Acta. 2006 Dec;1763(12):1733-48. [Content Brief]

[6]. Tuva Barøy, et al. A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. Hum Mol Genet. 2015 Oct 15;24(20):5845-54. [Content Brief]

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