Document Type : original article
- Marziyeh Alamatsaz 1
- Kamran Ghaedi 2
- Motahare-Sadat Hashemi 3
- Yousef Shafeghati 4
- Mohammad Faghihi 5
- Mohammad Hossein Nasr-Esfahani 3
1 Department of Biology, Division of Cellular and Molecular Biology, Nour Danesh Institute of Higher Education, Meymeh, Isfahan, Iran.
2 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.
3 Department of Cellular Biotechnology, Cell Science Research Center, Royan Institute for Biotechnology, ACECR, Isfahan, Iran.
4 Sarem Cell Research Center and Medical Genetics Department, Sarem Women Hospital, Tehran, Iran.
5 Center for Therapeutic Innovation, Department of Psychiatry and Behavioral Sciences, Miller School of Medicine, University of Miami, Miami, FL, USA.
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.
A homozygous mutation, G257A, was identified PEX7 in the genome of patient while the parents were compound heterozygous.
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.