The quantity of full-length (30F/31R and 31F/32R) and rodless (30F/32R) plectin transcripts in the proband's cultured fibroblasts is reduced in comparison to those of the normal control. National Center for Biotechnology Information, Unable to load your collection due to an error, Unable to load your delegates due to an error, Plectin structure, antibodies against plectin, specific primers to amplify the full-length and the rodless plectin transcripts and. group of disorders that cause the body's muscles to become increasingly weak The family members were confirmed by Sanger sequencing. Epidermolysis bullosa simplex with muscular dystrophy. An electrode needle is inserted into the muscle to be tested. -, Elliott CE, Becker B, Oehler S, Castanon MJ, Hauptmann R, Wiche G. Plectin transcript diversity: identification and tissue distribution of variants with distinct first coding exons androdless isoforms. Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD; OMIM #226670) is an autosomal recessive disease, characterized mainly by skin blistering at birth or shortly thereafter, progressive muscle weakness, and rarely by alopecia. A neuromuscular … 2008;58:931–50. Gundesli H, Talim B, Korkusuz P, et al. This phenotype was first described in three consanguineous Turkish families carrying a … Dermatol Clin. (C) Abdominal X-ray reveal single bubble sign (arrows), which indicated pyloric atresia. (D) Electron microscopy of the skin specimens from the proband reveals skin detachment within basal keratinocytes. Mutations in the gene encoding plectin (PLEC) cause two distinct autosomal recessive subtypes of epidermolysis bullosa: EB simplex (EBS) with muscular dystrophy (EBS-MD), and EBS with pyloric atresia (EBS-PA). Mutations of the human plectin gene (PLEC)on chromosome 8q24 cause autosomal recessive epidermolysis bullosa simplex with muscular dystrophy (EBS-MD). 2015 Feb;25(2):165-8. doi: 10.1016/j.nmd.2014.09.011. Muscle Nerve. Get the latest public health information from CDC: https://www.coronavirus.gov, Get the latest research information from NIH: https://www.nih.gov/coronavirus, Find NCBI SARS-CoV-2 literature, sequence, and clinical content: https://www.ncbi.nlm.nih.gov/sars-cov-2/. Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies. J Dermatol Sci. Immunofluorescence analysis of the proband's skin sample.  |  doi: 10.1016/j.det.2010.01.001. 2020. doi:10.1111/j.0906-6705.2005.00324.x. Synonyms: Muscular dystrophy, limb-girdle, type 2Q , Autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency, LGMD2Q, Autosomal recessive limb-girdle muscular dystrophy type 2Q, Plectin-related limb-girdle muscular dystrophy R17, LGMD type 2Q, Plectin-related LGMD R17 Limb-girdle muscular dystrophy type 2S. Limb-girdle. Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy. Sequence similarities. J Clin Invest. Muscular dystrophy (MD) is a collective group of inherited noninflammatory but progressive muscle disorders without a central or peripheral nerve abnormality. Plectin: Congenital Muscular Dystrophy + Junctional Epidermolysis Bullosa; Titin: LGMD 2J. 1997;42:115–25. This damage and weakness is due to the lack of a protein called dystrophin, which … Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency. muscular dystrophy showed reactivity of plectin all along the. This study demonstrates that plectin deficiency can indeed lead to both muscular dystrophy and pyloric atresia in an individual EBS patient. doi: 10.1002/humu.21330. 2014;1(1):75-90. doi: 10.3233/JND-140021. Muscular dystrophies are a group of diseases that make muscles weaker and less flexible over time. Using HD1-121, only full-length plectin is observed in the normal control. In its most … Kyrova J, Kopeckova L, Buckova H, Mrazova L, Vesely K, Hermanova M, Oslejskova H, Fajkusova L. J Dermatol Case Rep. 2016 Nov 30;10(3):39-48. doi: 10.3315/jdcr.2016.1231.  |  In normal human skin, immunofluorescence shows that all of the antibodies against plectin (PN643, HD1-121, PC815 and C20) tested in this study bound to the dermal epidermal junction (DEJ) (F - I). Epidermolysis bullosa simplex with muscular dystrophy. Similarly, the defining characteristic of congenital muscular dystrophies is presentation prior to 1 year of age. Distal. It is characterised by progressive muscle wasting which affects predominantly hip and shoulder muscles. Megaconial congenital muscular dystrophy (OMIM 602541) is characterized with early-onset hypotonia, muscle wasting, proximal weakness, cardiomyopathy, mildly elevated serum creatine kinase (CK) … Immunoblot analysis of extracts from fibroblasts of the normal control and the proband by using PN643 against the N-terminal actin- binding domain, HD1-121 against the rod domain and C20 against the C-terminal plectin repeats. The function of plectin as a putative attachment protein also in the muscle would explain the clinical phenotype consisting of cutaneous fragility and muscular dystrophy in EB-MD. Orphanet J Rare Dis. Chaouch A, Porcelli V, Cox D, Edvardson S, Scarcia P, De Grassi A, Pierri CL, Cossins J, Laval SH, Griffin H, Müller JS, Evangelista T, Töpf A, Abicht A, Huebner A, von der Hagen M, Bushby K, Straub V, Horvath R, Elpeleg O, Palace J, Senderek J, Beeson D, Palmieri L, Lochmüller H. J Neuromuscul Dis. Is expressed in epidermis and yolk syncytial layer. 2015 Mar;77(3):139-45. doi: 10.1016/j.jdermsci.2014.11.005. Clipboard, Search History, and several other advanced features are temporarily unavailable. Human ortholog(s) of this gene implicated in autosomal recessive limb-girdle muscular dystrophy type 2Q; epidermolysis bullosa simplex; epidermolysis bullosa simplex Ogna type; and epidermolysis bullosa simplex with muscular dystrophy. The negative control reaction (DNA-free water instead of cDNA) shows no PCR products. Contraction-related cytoskeleton α-Actin (ACTA1): Rod myopathy; α-Tropomyosin 3 (TPM3): Rod myopathy (NEM1) Troponin T1: Rod myopathy; Myosin: Acute quadriplegic myopathies; Hypertrophic cardiomyopathies; Hearing loss. Duchenne muscular dystrophy (DMD) is one of the most frequent forms of muscular disorders. … Mutations in the PLEC gene also cause at least one other form of epidermolysis bullosa known as epidermolysis bullosa with muscular dystrophy. Plectin is a cytoskeletal linker protein which has a long central rod and N- and C-terminal globular domains. Orthologous to human PLEC (plectin). (B) Vesicles and erosions are scattered on the right knee. Contains 1 actin-binding domain. In contrast, staining with C20 is negative in the proband's skin sample (D). (A) Aplasia cutis is observed on the left lower leg at birth. The PolyPhen‑2, SIFT and MutationTaster tools were used to predicted the possible effect … Please enable it to take advantage of the complete set of features! Epidermolysis bullosa simplex with muscular dystrophy (MD-EBS) is a disease characterized by generalized blistering of the skin associated with muscular involvement. Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission. 2016;2016:3128735. doi: 10.1155/2016/3128735. The human plectin gene ... Plectinopathies thus far comprise five autosomal‐recessive entities, including epidermolysis bullosa simplex with muscular dystrophy (EBS‐MD), EBS‐MD with myasthenic syndrome (EBS‐MD‐MyS), limb girdle muscular dystrophy type 2Q, EBS with pyloric atresia, skin‐only EBS; and the autosomal‐dominant variant EBS‐Ogna. ; Leigh, I.M. This site needs JavaScript to work properly. Gache et al. 340086-epidermolysis-bullosa-with-late-onset-muscular-dystrophy-and-plectin-deficiency; Help; Report an issue; Journal article. Limb-girdle muscular dystrophy 2Q (LGMD2Q) is a specific mutation in the plectin (PLEC1) gene at chromo-some 8q24.3. Mutations of the human plectin gene (PLEC) on chromosome 8q24 cause autosomal recessive epidermolysis bullosa simplex with muscular dystrophy (EBS-MD). Skeletal muscle: A review of molecular structure and function, in health and disease. Genome-Wide Association Study Identifies Genomic Loci Affecting Filet Firmness and Protein Content in Rainbow Trout. Hemidesmosomes are hypoplastic and are observed at the base of the blisters (arrows) (Bar=1μm). Mutations in the PLEC1 gene encoding … In this paper, … a phenotype of recessive limb-girdle muscular dystrophy, LGMD R17 plectin-related (MIM #613723, previously known as LGMD 2Q), was reported [10]. It is caused by the absence of dystrophin, a core component of the sarcolemma-associated junctional complex that links the cytoskeleton to the extracellular matrix. GAPDH mRNA expression was used as the loading control in these experiments. Epidermolysis bullosa simplex with muscular dystrophy.  |  Plectin mutations, inherited in an autosomal recessive pattern, result in distinct phenotypes, including EBS with muscular dystrophy … • Pfendner E, Rouan F, Uitto J (Apr 2005). Eppie M Yiu, Alfred Klausegger, Leigh B Waddell, Nikolaus Grasern, Lyn Lloyd, Kim Tran, Kathryn N North, Johann W Bauer, Penelope Mckelvie, CW Chow, Monique M Ryan, Dedee F … Abstract. Epidermolysis bullosa simplex with muscular dystrophy. eCollection 2019. Immunoblot analysis of cultured fibroblasts from the normal human control and the proband. 1114, Aplasia cutis congenita 257, Epidermolysis bullosa simplex with muscular dystrophy 158684, Epidermolysis bullosa simplex with pyloric atresia 79401, Epidermolysis bullosa simplex, Ogna type 254361, Plectin-related limb-girdle muscular dystrophy R17: PharmGKB i: PA33399 Limb-girdle muscular dystrophy 2Q (LGMD2Q) is a specific mutation in the plectin (PLEC1) gene at chromosome 8q24.3. 2019 Feb 26;14(1):57. doi: 10.1186/s13023-019-1025-5. (1996) presented evidence that epidermolysis bullosa simplex with muscular dystrophy (EBSMD; 226670) is due to plectin deficiency. Repetitive nerve stimulation showed significant decrement, and strength improved with pyridostigmine. 2013 Apr;168(4):808-14. doi: 10.1111/bjd.12202. The dominantly inherited EBS-Ogna has a mild course restricted to skin involvement (7). Villa CR, Ryan TD, Collins JJ, Taylor MD, Lucky AW, Jefferies JL. S2CID 27756698. LGMD has an autosomal pattern of inheritance and currently has no known cure or … Mutations in the gene encoding plectin (PLEC) cause two distinct autosomal recessive subtypes of epidermolysis bullosa: EB simplex (EBS) with muscular dystrophy (EBS-MD), and EBS with pyloric atresia (EBS-PA). Experimental Dermatology. This appears in the teens to early adulthood and affects males and females. Am J Hum Genet .  |  Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency. 1998;101:1490–9. Review of the literature and a case report. Plectin structure, antibodies against plectin,…, Plectin structure, antibodies against plectin, specific primers to amplify the full-length and the…, Clinical and ultrastructural features of…, Clinical and ultrastructural features of the proband. Limb-girdle muscular dystrophy 2Q (LGMD2Q) is a specific mutation in the plectin (PLEC1) gene at chromosome 8q24.3. -, Chiaverini C, Charlesworth A, Meneguzzi G, Lacour JP, Ortonne JP. NIH In addition to skin blistering, people with this disorder … 14 (4): 241–9. This site needs JavaScript to work properly. Left ventricular non-compaction cardiomyopathy associated with epidermolysis bullosa simplex with muscular dystrophy and PLEC1 mutation. Wiley Interdiscip Rev Syst Biol Med. Genomics. Dermatol Clin. PLEC (Plectin) is a Protein Coding gene. Contraction-related cytoskeleton α-Actin (ACTA1): Rod myopathy; α-Tropomyosin 3 (TPM3): Rod myopathy (NEM1) … Mutations in the gene encoding plectin (PLEC) cause two distinct autosomal recessive subtypes of epidermolysis bullosa: EB simplex (EBS) with muscular dystrophy (EBS-MD), and EBS with pyloric atresia (EBS-PA). Natsuga K, Nishie W, Akiyama M, Nakamura H, Shinkuma S, McMillan JR, Nagasaki A, Has C, Ouchi T, Ishiko A, Hirako Y, Owaribe K, Sawamura D, Bruckner-Tuderman L, Shimizu H. Hum Mutat. Charlesworth A, Chiaverini C, Chevrant-Breton J, DelRio M, Diociaiuti A, Dupuis RP, El Hachem M, Le Fiblec B, Sankari-Ho AM, Valhquist A, Wierzbicka E, Lacour JP, Meneguzzi G. Br J Dermatol. 2010 Apr;28(2):245-55, viii. Abstract. A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report. The proband began walking at age 3 years and had occasional falls and difficulties in climbing stairs. In muscular dystrophy, abnormal genes (mutations) interfere with the production of proteins needed to form healthy muscle.There are many different kinds of muscular dystrophy. Nakamura H, Sawamura D, Goto M, Nakamura H, McMillan JR, Park S, Kono S, Hasegawa S, Paku S, Nakamura T, Ogiso Y, Shimizu H. J Mol Diagn. Plectin is a cytoskeletal linker protein which has a long central rod and N- and C-terminal globular domains. NIH Clinical and ultrastructural features of the proband. In the present study, targeted sequencing using a muscle disease gene panel was performed in a patient with muscular dystrophy. Wiley Interdiscip Rev Syst Biol Med. Abstract Mutations in the PLEC1 gene encoding plectin have been reported in neonatal epidermolysis bullosa simplex with muscular dystrophy of later-onset (EBS-MD). -. (A) Aplasia cutis is observed on…, The novel PLEC mutations detected in the study. Contains 33 plectin repeats. limb girdle muscular dystrophy is an umbrella name for a group of diseases which exhibits proximal weakness of the shoulder and pelvic girdles. Contains 4 spectrin repeats. 87(6):834-41. The PLEC gene encodes the large cytolinker protein plectin (3–5). Plectin can interact with itself, with IFs, and with multiple domains of the β4 integrin tail. National Center for Biotechnology Information, Unable to load your collection due to an error, Unable to load your delegates due to an error. The family members were confirmed by Sanger sequencing. 2018 Jan 20;18(1):1. doi: 10.1186/s12895-018-0069-x. 6 Mutational analysis for … USA.gov. ; Owaribe, K.; Wiche, G.; Fujii, N.; Uitto, J.; Eady, R.A.J. 44(1):135-41. . Emery-Dreifuss muscular dystrophy (EDMD) is one of nine types of muscular dystrophy, a group of genetic, degenerative diseases primarily affecting voluntary muscles. COVID-19 is an emerging, rapidly evolving situation. Novel compound heterozygous mutations in the plectin gene in epidermolysis bullosa with muscular dystrophy and the use of protein truncation test for detection of premature termination codon mutations. The essential role of plectin in the latter is highlighted by the observation that mutations in the human plectin gene (PLEC) on chromosome 8q24 cause a variety of rare human disorders (referred to as “plectinopathies”), namely autosomal recessive epidermolysis bullosa simplex with muscular dystrophy (EBS-MD, MIM #226670), EBS-MD with myasthenic features (EBS-MD-MyS), limb girdle muscular … Limb–girdle muscular dystrophy or (LGMD) is a genetically and clinically heterogeneous group of rare muscular dystrophies. In two patients investigated by the authors, … eCollection 2016 Nov 30. Deficiency in either plectin or desmin lead to muscular dystrophies of similar pathology. Diseases associated with PLEC include Epidermolysis Bullosa Simplex, Ogna Type and Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17.Among its related pathways are Degradation of the extracellular matrix and Cytoskeleton remodeling Neurofilaments.Gene Ontology (GO) annotations related to this gene include structural constituent of muscle. Equal protein loading was confirmed by reprobing with AC 15 (anti-beta-actin antibody). Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy. Synonyms: Muscular dystrophy, limb-girdle, type 2Q , Autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency, LGMD2Q, Autosomal recessive limb-girdle muscular dystrophy type 2Q, Plectin-related limb-girdle muscular dystrophy R17, LGMD type 2Q, Plectin-related LGMD R17 Limb-girdle muscular dystrophy type 2S. 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A Virginia family in the proband samples and cultured fibroblasts from the revealed... ) Electron microscopy of the human plectin gene ( PLEC1 ) gene at chromosome 8q24.3, Karakaya M, Kurul., Hız Kurul S, Lacour JP, Ortonne JP causes droopy eyelids ( ptosis ) ( EB:... Among a Virginia family in the plectin gene loading control in these experiments dystrophy … PLEC plectin! Plectin deficiency and plectin deficiency can indeed lead to both muscular dystrophy never! Together with a Homozygous mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, autosomal-recessive! From the normal human fibroblasts increasingly weak Gache et al is a cytoskeletal linker protein which has a central! Without evidence of morphologic aberrations H, Talim B, Salem M. Genomics. Be tested needle is inserted into the muscle to be tested ( OMIM.... Further genetic testing, revealing recessive PLEC1 mutations of similar pathology MD, Lucky AW, Jefferies.. 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