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:: Volume 8, Issue 3 (Int J Mol Cell Med [In press] 2019) ::
Int J Mol Cell Med 2019, 8(3): 0-0 Back to browse issues page
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
Neda Mohsen-Pour1, Hassan Rokni-Zadeh2, Mehdi Maghbooli3, Majid Changi-Ashtiani4, Mohammad Shahrooei5, Mansoor Salehi6, Mahdiyeh Behnam7, Tina Shahani1, Alireza Biglari 8
1- Department of Genetics and Molecular Medicine, School of Medicine, Zanjan University of Medical Sciences (ZUMS), Zanjan, Iran.
2- Department of Medical Biotechnology, School of Medicine, Zanjan University of Medical Sciences (ZUMS), Zanjan, Iran.
3- Department of Neurology, School of Medicine, Zanjan University of Medical Sciences (ZUMS), Zanjan, Iran.
4- School of Mathematics, Institute for Research in Fundamental Sciences (IPM), Tehran, Iran.
5- Experimental Laboratory Immunology, Department of Microbiology and Immunology, KU Leuven, Leuven, Belgium; Specialized Immunology Laboratory of Dr. Shahrooei, Ahvaz, Iran.
6- 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.
7- Cellular, Molecular and Genetics Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.
8- Department of Genetics and Molecular Medicine, School of Medicine, Zanjan University of Medical Sciences (ZUMS), Zanjan, Iran. , biglari@zums.ac.ir
Abstract:   (337 Views)
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.
Keywords: BSCL2, GJB1, Whole Exome Sequencing, Iranian Charcot-Marie-Tooth patients
     
Type of Study: Original Article | Subject: Genetics & Disease
Received: 2019/10/5 | Accepted: 2019/11/26 | Published: 2019/11/26
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Mohsen-Pour N, Rokni-Zadeh H, Maghbooli M, Changi-Ashtiani M, Shahrooei M, Salehi M, et al . 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. Int J Mol Cell Med. 2019; 8 (3)
URL: http://ijmcmed.org/article-1-1175-en.html


Volume 8, Issue 3 (Int J Mol Cell Med [In press] 2019) Back to browse issues page
International Journal of Molecular and Cellular Medicine (IJMCM) International Journal of Molecular and Cellular Medicine (IJMCM)
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