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Iranian Journal of Basic Medical Sciences، جلد ۲۲، شماره ۵، صفحات ۵۷۶-۵۸۰
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عنوان انگلیسی Whole exome sequencing revealed a novel dystrophin-related protein-2 (DRP2) deletion in an Iranian family with symptoms of polyneuropathy
چکیده انگلیسی مقاله Objective(s): Charcot-Marie Tooth disease (CMT) is one of the main inherited causes of motor and sensory neuropathies with variable expressivity and age-of onset. Although more than 70 genes have been identified for CMT, more studies are needed to discover other genes involved in CMT. Introduction of whole exome sequencing (WES) to capture all the exons may help to find these genes.Materials and Methods: Here, we tried to find the genetic cause of the neuropathy in two Iranian brothers using WES. Blood sample was collected from probands and their family members to extract the genomic DNA. The extracted DNA from one of the affected case was subjected for WES. The variant calls were filtered  to reveal the pathogenic variant. Presence of the candidate mutation was confirmed using Sanger sequencing. The pathogenic potential of the variant was examined using in silico software. Using ClustalW multiple alignment, the presence of variant in conserved domain of protein was investigated. The parent and another affected boy were also checked for presence of the variant using PCR-sequencing. Results: The obtained data presented a novel TTC del mutation in CDS 738 of dystrophin related protein 2 (DRP2) gene, which was validated by sequencing. The variant was located in a conserved domain of DRP2 protein and predicted as pathogenic. Two affected boys were hemizygous for the mutation and received the mutation from mother. Conclusion: Here, we provided the evidence for the contribution of DRP2 in CMT. Also, the symptoms shed light on molecular aspect of this genetically heterogeneous disease.
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نویسندگان مقاله | Maryam Tahmasebi Birgani
Department of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran


| Mohammadreza Hajjari
Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran


| Neda Golchin
Noor Genetics Lab. Ahvaz, Iran


| Bita Shalbafan
Iranian Social Security Organization, Labafinejad Hospital, Tehran, Iran


| Javad Mohammadi-Asl
Noor Genetics Lab. Ahvaz, Iran


| Forouzan Sadeghian
Aboozar Children’s Hospital, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
نشانی اینترنتی http://ijbms.mums.ac.ir/article_12463.html
فایل مقاله اشکال در دسترسی به فایل - ./files/site1/rds_journals/87/article-87-1339858.pdf
کد مقاله (doi)
زبان مقاله منتشر شده en
موضوعات مقاله منتشر شده
نوع مقاله منتشر شده Short Communication
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