این سایت در حال حاضر پشتیبانی نمی شود و امکان دارد داده های نشریات بروز نباشند
Iranian Journal of Basic Medical Sciences، جلد ۲۴، شماره ۲، صفحات ۱۹۱-۱۹۵
عنوان فارسی
چکیده فارسی مقاله
کلیدواژه‌های فارسی مقاله
عنوان انگلیسی Identification of a novel homozygous mutation in the DDR2 gene from a patient with spondylo-meta-epiphyseal dysplasia by whole exome sequencing
چکیده انگلیسی مقاله Objective(s): The spondylo-meta-epiphyseal dysplasia (SMED) short limbs-hand type is a rare autosomal recessive disease, which is characterized by premature calcification leading to severe disproportionate short stature and various skeletal changes. Defective function of a conserved region encoding discoidin domain receptor tyrosine kinase 2 (DDR2 protein) by the discoidin domain-containing receptor 2 (DDR2 gene) is cause of this disease. The purpose of present study was to investigate disease-causing mutations on DDR2 gene in an Iranian family with SMED, and predict the DDR2 protein molecular mechanism in development of SMED.Materials and Methods: In the present study, we evaluated a 2-year-old male with SMED. Detection of genetic changes in the studied patient was performed using Whole-Exome Sequencing (WES). PCR direct sequencing was performed for analysis of co-segregation of variants with the disease in family. Finally, in silico study was performed for further identification of molecular function of the identified genetic variant.Results: We detected a novel splice-site mutation (NM_001014796: exon9: c.855+1G>A; NM_006182: exon8: c.855+1G>A) in DDR2 gene of the studied patient using WES. This mutation was exclusively detected in patients with homozygous SMED, not in healthy people. The effects of detected mutation on functions of DDR2 protein was predicted using in silico study.Conclusion: The causative mutation in studied patient with SMED was identified using Next-generation sequencing (NGS), successfully. The identified novel mutation in DDR2 gene can be useful in prenatal diagnosis (PND) of SMED, preimplantation genetic diagnosis (PGD), and genetic counseling.
کلیدواژه‌های انگلیسی مقاله DDR2 gene In silico Sanger sequencing Splice, site mutation Spondylo, meta, epiphyseal dysplasia Whole exome sequencing
نویسندگان مقاله | Masoud Heidari
Department of Animal Biology, Faculty of Natural Sciences, University of Tabriz, Tabriz, Iran


| Morteza Soleyman-Nejad
Ariagene Medical Genetics Laboratory, Mahmoudnejad Ave, Qom, Iran


| Alireza Isazadeh
Immunology Research Center, Tabriz University of Medical Sciences, Tabriz, Iran


| Mohammad Hossein Taskiri
Ariagene Medical Genetics Laboratory, Mahmoudnejad Ave, Qom, Iran


| Manzar Bolhassani
Ariagene Medical Genetics Laboratory, Mahmoudnejad Ave, Qom, Iran


| Nahid Sadighi
Advanced Diagnostic and Interventional Radiology Research Center (ADIR), Tehran University of Medical Sciences (TUMS), Tehran, Iran


| Zahra Shiri
Ariagene Medical Genetics Laboratory, Mahmoudnejad Ave, Qom, Iran


| Zahra Karimi
Ariagene Medical Genetics Laboratory, Mahmoudnejad Ave, Qom, Iran


| Mansour Heidari
Ariagene Medical Genetics Laboratory, Mahmoudnejad Ave, Qom, Iran|Department of Medical Genetics, Tehran University of Medical Sciences (TUMS), Tehran, Iran
نشانی اینترنتی https://ijbms.mums.ac.ir/article_17190.html
فایل مقاله فایلی برای مقاله ذخیره نشده است
کد مقاله (doi)
زبان مقاله منتشر شده en
موضوعات مقاله منتشر شده
نوع مقاله منتشر شده Original Article
برگشت به: صفحه اول پایگاه   |   نسخه مرتبط   |   نشریه مرتبط   |   فهرست نشریات