| چکیده انگلیسی مقاله |
Background: Plectinopathy-associated disorders are caused by mutations in the PLECTIN (PLEC) gene encoding Plectin protein. PLECmutations cause a spectrum of diseases defined by varying degrees of signs, mostly with epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) and plectinopathy-related disorder is limb-girdle muscular dystrophy type 2Q (LGMD2Q). Here we report three cases with EBS-MD and LGMD2Q disorders analyzed by exome sequencing followed by mutation confirmation.
Methods: A complete clinical examination was done by expert specialists and clinical geneticists in Next Generation Genetic polyclinic, Mashhad, Iran (NGC, years 2020 _2021),. Genomic DNA was extracted and evaluated through whole-exome sequencing analysis followed by Sanger sequencing for co-segregation analysis of PLEC candidate variants.
Results: We found three cases with the plectinopathy-related disease, two patients with limb-girdle muscular dystrophy type 2Q (LGMD2Q), and the other affected proband suffers from epidermolysis bullosa simplex combined with muscular dystrophy (EBS-MD) with variable zygosity mutations for PLEC. Motor development disorder and muscular dystrophy symptoms have different age onset in affected individuals. Patients with EBS demonstrated symptoms such as blistering, skin scars, neonatal-onset, and nail dystrophy.
Conclusion: We report plectinopathy-associated disorders to expand clinical phenotypes in different types of PLEC-related diseases. We suppose to design more well-organized research based on comprehensive knowledge about the genetic basis of plectinopathy diseases. |
| نویسندگان مقاله |
| Paria Najarzadeh Torbati
Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran
| Mohammad Doosti
Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran
| Payam Sarraf
1. Iranian Center of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran 2. Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran
| Reza Boostani
Department of Neurology, Mashhad University of Medical Sciences, Mashhad, Iran
| Najmeh Ahangari
1. Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran 2. Mashhad University of Medical Sciences, Mashhad, Iran
| Mehran Beiraghi Toosi
Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran
| Abbas Tafakhori
1. Iranian Center of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran 2. Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran
| Meisam Babaei
Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnourd, Iran
| Soheila Abedini
Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran
| Hadis Malek
Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran
| Samaneh Maskani
Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran
| Mojtaba Safi
Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran
| Ehsan Ghayoor Karimiani
Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran
|