A Missense Mutation of G257A at Exon 3 in PEX7 CDS Was Responsible for the Incidence of Rhizomelic Chondrodysplasia Punctata Type 1

Alamatsaz, Marziyeh and Ghaedi, Kamran and Hashemi, Motahare-Sadat and Shafeghati, Yousef and Faghihi, Mohammad and Nasr-Esfahani, Mohammad Hossein (2018) A Missense Mutation of G257A at Exon 3 in PEX7 CDS Was Responsible for the Incidence of Rhizomelic Chondrodysplasia Punctata Type 1. International Journal of Pediatrics, 6 (2). pp. 7193-7200.

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Abstract

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 parentsâ�� 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.Â

Item Type: Article
Subjects: WA Public Health
WS Pediatrics
Divisions: Journals > International J Pediatrics
Depositing User: IJP IJP
Date Deposited: 13 Feb 2018 05:34
Last Modified: 13 Feb 2018 05:34
URI: http://eprints.mums.ac.ir/id/eprint/9228

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