Identification of a novel missense mutation of PEX7 gene in an Iranian patient with rhizomelic chondrodysplasia punctata type 1.

Abstract

Deficiency in the PTS2 protein import pathway due to mutations in PEX7 gene results in the rhizomelic chondrodysplasia punctata (RCDP) type 1. In the present study, we have reported a novel missense mutation, W75R, in the PEX7 gene in an Iranian patient with the RCDP type 1. The inability of PEX7 protein to transport PTS2 containing proteins including peroxisomal 3-ketoacyl-CoA thiolase and PTS2-EGFP protein to the surface of the peroxisomes showed that the W75R mutation in PEX7 gene severely impaired the function of PEX7 protein and was responsible for RCDP type 1 in this patient.

• Authors: Parisa Mohamadynejad, Kamran Ghaedi, Yousef Shafeghati, Ahmad Salamian, Somayeh Tanhaie, Fereshteh Karamali, Farzaneh Rabiee, Kazem Parivar, Hossein Baharvand, Mohammad Hossein Nasr-Esfahani
• Journal: Gene (Gene) Vol. 518 Issue 2 Pg. 461-6 (Apr 15 2013) ISSN: 1879-0038 [Electronic] Netherlands
• PMID: 23357221 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2013 Elsevier B.V. All rights reserved.

Chemical References

• PEX7 protein, human
• Peroxisomal Targeting Signal 2 Receptor
• Receptors, Cytoplasmic and Nuclear
• Acetyl-CoA C-Acyltransferase

Topics

• Acetyl-CoA C-Acyltransferase (metabolism)
• Amino Acid Sequence
• Base Sequence
• Cells, Cultured
• Child, Preschool
• Chondrodysplasia Punctata, Rhizomelic (genetics)
• Humans
• Iran
• Male
• Molecular Sequence Data
• Mutation, Missense
• Peroxisomal Targeting Signal 2 Receptor
• Protein Transport (genetics)
• Receptors, Cytoplasmic and Nuclear (chemistry, genetics)
• Sequence Alignment
• Sequence Analysis, DNA