Expanding the Clinical Phenotype of PLECTIN-Related Plectinopathies.

Autor:	Torbati PN; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Doosti M; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Sarraf P; Iranian Center of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran.; Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran., Boostani R; Department of Neurology, Mashhad University of Medical Sciences, Mashhad, Iran., Ahangari N; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Mashhad University of Medical Sciences, Mashhad, Iran., Toosi MB; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran., Tafakhori A; Iranian Center of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran.; Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran., Babaei M; Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnourd, Iran., Abedini S; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Malek H; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Maskani S; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Safi M; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Karimiani EG; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.
Jazyk:	angličtina
Zdroj:	Iranian journal of public health [Iran J Public Health] 2024 May; Vol. 53 (5), pp. 1184-1191.
DOI:	10.18502/ijph.v53i5.15600
Abstrakt:	Background: Plectinopathy-associated disorders are caused by mutations in the PLECTIN (PLEC) gene encoding Plectin protein. PLEC mutations 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. (Copyright© 2024 Najarzadeh Torbati et al. Published by Tehran University of Medical Sciences.)
Databáze:	MEDLINE
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