Marziyeh Alamatsaz - Department of Biology, Division of Cellular and Molecular Biology, Nour Danesh Institute of Higher Education, Meymeh, Isfahan, Iran.
Kamran Ghaedi - Department of Biology, Faculty of Sciences, University of Isfahan, Isfahan, Iran AND Department of Cellular Biotechnology, Cell Science Research Center, Royan Institute for Biotechnology, ACECR, Isfahan, Iran.
Motahare-Sadat Hashemi - Department of Cellular Biotechnology, Cell Science Research Center, Royan Institute for Biotechnology, ACECR, Isfahan, Iran.
Yousef Shafeghati - Sarem Cell Research Center and Medical Genetics Department, Sarem Women Hospital, Tehran, Iran.

Background Rhizomelic chondrodysplasia punctata (RCDP) type 1 is among of the rare autosomal recessive peroxisome biogenesis disorders caused by mutations in the PEX7 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 identified PEX7 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 pathogenic PEX7, responsible for incidence of RCDP. 

Fibroblast, Peroxisome biogenesis disorder, PEX7, PTS2, RCDP