Identification of a novel missense mutation of PEX7 gene in an Iranian patient with rhizomelic chondrodysplasia punctata type 1.
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.
Biology Department, Science and Research Branch, Islamic Azad University, Tehran, Iran.
Parisa
P
Mohamadynejad
Kamran
K
Ghaedi
Yousef
Y
Shafeghati
Ahmad
A
Salamian
Somayeh
S
Tanhaie
Fereshteh
F
Karamali
Farzaneh
F
Rabiee
Kazem
K
Parivar
Hossein
H
Baharvand
Mohammad Hossein
MH
Nasr-Esfahani
D000102:Acetyl-CoA C-Acyltransferase / Q000378:metabolism; D000595:Amino Acid Sequence; D001483:Base Sequence; D002478:Cells, Cultured; D002675:Child, Preschool; D018902:Chondrodysplasia Punctata, Rhizomelic / Q000235:genetics*; D006801:Humans; D007492:Iran; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D000074437:Peroxisomal Targeting Signal 2 Receptor / Q000172:deficiency; D021381:Protein Transport / Q000235:genetics; D018160:Receptors, Cytoplasmic and Nuclear / Q000737:chemistry / Q000235:genetics*; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA
C000614269:PEX7 protein, human; D000074437:Peroxisomal Targeting Signal 2 Receptor; D018160:Receptors, Cytoplasmic and Nuclear; D000102:Acetyl-CoA C-Acyltransferase