International Journal of Molecular and Cellular Medicine، جلد ۸، شماره ۳، صفحات ۰-۰
عنوان فارسی
چکیده فارسی مقاله
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عنوان انگلیسی Whole Exome Sequencing Revealed a Novel GJB1 Pathogenic Variant and a Rare BSCL2 Mutation in Two Iranian Large Pedigrees with Multiple Affected Cases of Charcot-Marie-Tooth
چکیده انگلیسی مقاله Charcot-Marie-Tooth disease (CMT) is the most common hereditary neuropathy of the peripheral nervous system with a wide range of severity and age of onset. CMT patients share similar phenotypes which make it often impossible to identify the disease types based on clinical presentation and electrophysiological studies alone. In recent years, novel genetic diagnostic approaches such as whole exome sequencing (WES) has provided a ground for accurate diagnosis of CMT through identification of the disease-causing mutation(s). In the present study, that approach was effectively employed. Two unrelated large pedigrees with multiple affected cases of various pattern of inheritance (one autosomal dominant and one X-linked) were included. Clinical and electrophysiological data were obtained. DNA sample from each pedigree's proband was subjected to WES. Data analysis was performed using an in-house developed pipeline, adopted from GATK and ANNOVAR. Candidate variant segregation was evaluated by PCR-based Sanger sequencing.  A known but extremely rare (unreported in the Middle Easterners) mutation in BSCL2 (c.C269T:p.S90L) as well as a novel hemizygous variant in GJB1 (c.G224C:p.R75P) were identified and segregations were confirmed by Sanger sequencing.  This study supports effectiveness of WES for genetic diagnosis of CMT in undiagnosed families.
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نویسندگان مقاله | Neda Mohsen-Pour
Department of Genetics and Molecular Medicine, School of Medicine, Zanjan University of Medical Sciences (ZUMS), Zanjan, Iran.


| Hassan Rokni-Zadeh
Department of Medical Biotechnology, School of Medicine, Zanjan University of Medical Sciences (ZUMS), Zanjan, Iran.


| Mehdi Maghbooli
Department of Neurology, School of Medicine, Zanjan University of Medical Sciences (ZUMS), Zanjan, Iran.


| Majid Changi-Ashtiani
School of Mathematics, Institute for Research in Fundamental Sciences (IPM), Tehran, Iran.


| Mohammad Shahrooei
Experimental Laboratory Immunology, Department of Microbiology and Immunology, KU Leuven, Leuven, Belgium; Specialized Immunology Laboratory of Dr. Shahrooei, Ahvaz, Iran.


| Mansoor Salehi
Cellular, Molecular and Genetics Research Center, Isfahan University of Medical Sciences, Isfahan, Iran; Department of Genetics, Medical School, Isfahan University of Medical Sciences, Isfahan, Iran.


| Mahdiyeh Behnam
Cellular, Molecular and Genetics Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.


| Tina Shahani
Department of Genetics and Molecular Medicine, School of Medicine, Zanjan University of Medical Sciences (ZUMS), Zanjan, Iran.


| Alireza Biglari
Department of Genetics and Molecular Medicine, School of Medicine, Zanjan University of Medical Sciences (ZUMS), Zanjan, Iran.
نشانی اینترنتی http://ijmcmed.org/browse.php?a_code=A-10-2057-1&slc_lang=en&sid=1
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کد مقاله (doi)
زبان مقاله منتشر شده en
موضوعات مقاله منتشر شده Genetics & Disease
نوع مقاله منتشر شده Original Article
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