این سایت در حال حاضر پشتیبانی نمی شود و امکان دارد داده های نشریات بروز نباشند
International Journal of Pediatrics، جلد ۶، شماره ۲، صفحات ۷۱۹۳-۷۲۰۰
عنوان فارسی
چکیده فارسی مقاله
کلیدواژه‌های فارسی مقاله
عنوان انگلیسی A Missense Mutation of G257A at Exon 3 in PEX7 CDS Was Responsible for the Incidence of Rhizomelic Chondrodysplasia Punctata Type 1
چکیده انگلیسی مقاله 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. 
کلیدواژه‌های انگلیسی مقاله Fibroblast, Peroxisome biogenesis disorder, PEX7, PTS2, RCDP
نویسندگان مقاله مرضیه علامت ساز | marziyeh alamatsaz
department of biology, division of cellular and molecular biology, nour danesh institute of higher education, meymeh, isfahan, iran.


کامران قایدی | 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.

سازمان اصلی تایید شده: دانشگاه اصفهان (Isfahan university)

مطهره السادات هاشمی | motahare sadat hashemi
department of cellular biotechnology, cell science research center, royan institute for biotechnology, acecr, isfahan, iran.

سازمان اصلی تایید شده: پژوهشگاه رویان (Royan institute)

یوسف شفقتی | yousef shafeghati
sarem cell research center and medical genetics department, sarem women hospital, tehran, iran.


محمد فقیهی | mohammad faghihi
center for therapeutic innovation, department of psychiatry and behavioral sciences, miller school of medicine, university of miami, miami, fl, usa.


محمد حسین نصر اصفهانی | mohammad hossein nasr esfahani
department of cellular biotechnology, cell science research center, royan institute for biotechnology, acecr, isfahan, iran.

سازمان اصلی تایید شده: پژوهشگاه رویان (Royan institute)

نشانی اینترنتی http://ijp.mums.ac.ir/article_9556.html
فایل مقاله اشکال در دسترسی به فایل - ./files/site1/rds_journals/317/article-317-567899.pdf
کد مقاله (doi)
زبان مقاله منتشر شده en
موضوعات مقاله منتشر شده
نوع مقاله منتشر شده
برگشت به: صفحه اول پایگاه   |   نسخه مرتبط   |   نشریه مرتبط   |   فهرست نشریات