سامانه مدیریت نشریات علمی دانشگاه علوم پزشکی مشهد

Alamatsaz, Marziyeh, Ghaedi, Kamran, Hashemi, Motahare-Sadat, Shafeghati, Yousef, Faghihi, Mohammad, Nasr-Esfahani, Mohammad Hossein. (1396). A Missense Mutation of G257A at Exon 3 in PEX7 CDS Was Responsible for the Incidence of Rhizomelic Chondrodysplasia Punctata Type 1. , 6(2), 7193-7200. doi: 10.22038/ijp.2017.26197.2240
Marziyeh Alamatsaz; Kamran Ghaedi; Motahare-Sadat Hashemi; Yousef Shafeghati; Mohammad Faghihi; Mohammad Hossein Nasr-Esfahani. "A Missense Mutation of G257A at Exon 3 in PEX7 CDS Was Responsible for the Incidence of Rhizomelic Chondrodysplasia Punctata Type 1". , 6, 2, 1396, 7193-7200. doi: 10.22038/ijp.2017.26197.2240
Alamatsaz, Marziyeh, Ghaedi, Kamran, Hashemi, Motahare-Sadat, Shafeghati, Yousef, Faghihi, Mohammad, Nasr-Esfahani, Mohammad Hossein. (1396). 'A Missense Mutation of G257A at Exon 3 in PEX7 CDS Was Responsible for the Incidence of Rhizomelic Chondrodysplasia Punctata Type 1', , 6(2), pp. 7193-7200. doi: 10.22038/ijp.2017.26197.2240
Alamatsaz, Marziyeh, Ghaedi, Kamran, Hashemi, Motahare-Sadat, Shafeghati, Yousef, Faghihi, Mohammad, Nasr-Esfahani, Mohammad Hossein. A Missense Mutation of G257A at Exon 3 in PEX7 CDS Was Responsible for the Incidence of Rhizomelic Chondrodysplasia Punctata Type 1. , 1396; 6(2): 7193-7200. doi: 10.22038/ijp.2017.26197.2240

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

Journal of Pediatric Perspectives
مقاله 18، دوره 6، شماره 2 - شماره پیاپی 50، اردیبهشت 2018، صفحه 7193-7200    اصل مقاله (553.72 K)
نوع مقاله: original article
شناسه دیجیتال (DOI): 10.22038/ijp.2017.26197.2240
نویسندگان
Marziyeh Alamatsaz1؛ Kamran Ghaedi* 2؛ Motahare-Sadat Hashemi3؛ Yousef Shafeghati4؛ Mohammad Faghihi5؛ Mohammad Hossein Nasr-Esfahani3
1Department of Biology, Division of Cellular and Molecular Biology, Nour Danesh Institute of Higher Education, Meymeh, Isfahan, Iran.
2Department 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.
3Department of Cellular Biotechnology, Cell Science Research Center, Royan Institute for Biotechnology, ACECR, Isfahan, Iran.
4Sarem Cell Research Center and Medical Genetics Department, Sarem Women Hospital, Tehran, Iran.
5Center for Therapeutic Innovation, Department of Psychiatry and Behavioral Sciences, Miller School of Medicine, University of Miami, Miami, FL, USA.
چکیده
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. 
کلیدواژه‌ها
Fibroblast؛ Peroxisome biogenesis disorder؛ PEX7؛ PTS2؛ RCDP
آمار
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