Paper Information

Journal:   INTERNATIONAL JOURNAL OF PEDIATRICS   FEBRUARY 2018 , Volume 6 , Number 2 (50); Page(s) 7193 To 7200.
 
Paper: 

A MISSENSE MUTATION OF G257A AT EXON 3 IN PEX7 CDS WAS RESPONSIBLE FOR THE INCIDENCE OF RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 1

 
 
Author(s):  ALAMATSAZ MARZIEH, GHAEDI KAMRAN*, HASHEMI MOTAHARE SADAT, SHAFEGHATI YOUSEF, FAGHIHI MOHAMMAD, NASRESFAHANI MOHAMMAD HOSSEIN*
 
* DEPT. OF CELLULAR BIOTECHNOLOGY, CELL SCIENCE RESEARCH CENTER, ROYAN INSTITUTE FOR BIOTECHNOLOGY, ACECR, SFAHAN 8165131378, IRAN
 
Abstract: 

Background Rhizomelic chondrodysplasia punctata (RCDP) type 1 is among of the rare autosomal recessive peroxisome biogenesis disorders caused by mutations in thePEX7 gene. RCDP patients with the classic form of RCDP1 do not live more than 10- year.
Materials and Methods In the present study, a two-year-old girl with skeletal abnormalities and dysmorphic facial appearance is reported to be suffered from RCDP. The patient's parents were second cousins and healthy and there was no similar case in the parents’ family.
PEX7 gene was sequenced in the patient and her parents.
Results A homozygous mutation, G257A, was identifiedPEX7 in the genome of patient while the parents were compound heterozygous.
Conclusion Taken together, clinical presentation and peroxisome profile of the patient suggested a missense mutation led to formation of a pathogenicPEX7, responsible for incidence of RCDP.

 
Keyword(s): FIBROBLAST, PEROXISOME BIOGENESIS DISORDER, PEX7, PTS2, RCDP
 
References: 
  • ندارد
 
  pdf-File tarjomyar Yearly Visit 48
 
Latest on Blog
Enter SID Blog