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). Repetitive nerve stimulation showed significant decrement, and strength improved with pyridostigmine. 161 N. Clark, Suite 3550. 14 (4): 241–9. Independently and simultaneously, Smith et … What is Emery-Dreifuss muscular dystrophy? Previous studies have demonstrated that loss of full-length plectin with residual expression of the rodless isoform leads to EBS-MD, whereas complete loss or marked attenuation of expression of full-length and rodless plectin underlies the more severe EBS-PA phenotype. 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. LGMD has an autosomal pattern of inheritance and currently has no known cure or … Is expressed in epidermis and yolk syncytial layer. Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission. 2010 Apr;28(2):245-55, viii. Compound heterozygosity of unique in-frame insertion and deletion mutations in the plectin gene in a mild case of epidermolysis bullosa with very late onset muscular dystrophy. Abstract. J Am Acad Dermatol. 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/.  |  Muscular dystrophy is defined as muscle disease featuring degeneration and regeneration of muscle with fibrosis and fatty replacement. Gundesli et al. COVID-19 is an emerging, rapidly evolving situation. USA.gov.  |  In its most … doi: 10.1002/humu.21330. Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy. -, Fine JD, Eady RA, Bauer EA, Bauer JW, Bruckner-Tuderman L, Heagerty A, Hintner H, Hovnanian A, Jonkman MF, Leigh I. We report that the skin of three MD-EBS patients is not reactive with antibodies 6C6, 10F6, or 5B3 raised against the intermediate filament-associated protein plectin. Emery-Dreifuss muscular dystrophy (EDMD) is one of nine types of muscular dystrophy, a group of genetic, degenerative diseases primarily affecting voluntary muscles. Am J Hum Genet . 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 … Skeletal muscle: A review of molecular structure and function, in health and disease. Mutations of the human plectin gene (PLEC)on chromosome 8q24 cause autosomal recessive epidermolysis bullosa simplex with muscular dystrophy (EBS-MD). ; Owaribe, K.; Wiche, G.; Fujii, N.; Uitto, J.; Eady, R.A.J. (2010) reported a consanguineous Turkish family in which 4 individuals had autosomal recessive limb-girdle muscular dystrophy with onset in childhood and progression during the teenage years. Mutations of the human plectin gene (PLEC) on chromosome 8q24 cause autosomal recessive epidermolysis bullosa simplex with muscular dystrophy (EBS-MD). 1997;42:115–25. Clipboard, Search History, and several other advanced features are temporarily unavailable. PMID 15810881. This site needs JavaScript to work properly. Plectin's importance for hemidesmosome stability and tissue integrity is emphasized in patients with genetic mutations in the plectin gene who suffer from severe skin blistering and muscular dystrophy (Table 2). Epub 2014 Oct 2. Mutations in the PLEC gene also cause at least one other form of epidermolysis bullosa known as epidermolysis bullosa with muscular dystrophy. 2 . doi:10.1111/j.0906-6705.2005.00324.x. This site needs JavaScript to work properly. In the present study, targeted sequencing using a muscle disease gene panel was performed in a patient with muscular dystrophy. Sequence similarities. A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report. Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin. Epub 2019 Aug 13. LGMD R17 is associated so far with only recessive truncating mutations located in exon 1f, and manifests with muscle weakness without any skin involvement. Electromyography. We conclude that PLEC1 should be considered in the differential diagnosis of congenital muscular dystrophies and myasthenic syndromes, even in the absence of prominent skin involvement. The term "oculopharyngeal" refers to the eyes (oculo-) and a part of the throat called the pharynx (-pharyngeal). Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy. 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. J Dermatol Sci. Megaconial congenital muscular dystrophy (OMIM 602541) is characterized with early-onset hypotonia, muscle wasting, proximal weakness, cardiomyopathy, mildly elevated serum creatine kinase (CK) … Contraction-related cytoskeleton α-Actin (ACTA1): Rod myopathy; α-Tropomyosin 3 (TPM3): Rod myopathy (NEM1) … doi: 10.1002/wsbm.1462. Gundesli H, Talim B, Korkusuz P, et al. Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex. A nonsense mutation in the carboxyl-terminal domain of type X collagen causes haploinsufficiency in schmid metaphyseal chondrodysplasia. NLM In contrast, fibroblasts of the proband contained smaller proteins than 500-kDa full-length plectin, the putatively truncated full-length plectin (asterisks), which was detected with PN643 and HD1-121. Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations. This patient was previously shown to have absent muscle plectin staining as highlighted by the antibody HD1‐121. • Pfendner E, Rouan F, Uitto J (Apr 2005). COVID-19 is an emerging, rapidly evolving situation. 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). Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) can have the same symptoms and are caused by mutations in the same gene. Introduction Epidermolysis bullosa (EB) is a group of heritable blistering disorders characterized by fragility of the skin within the dermal-epidermal basement membrane zone (BMZ) ( 1 , 2 ). viii. Genome-Wide Association Study Identifies Genomic Loci Affecting Filet Firmness and Protein Content in Rainbow Trout. 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. Wiley Interdiscip Rev Syst Biol Med. Please enable it to take advantage of the complete set of features! -. (A) Aplasia cutis is observed on…, The novel PLEC mutations detected in the study. Argyropoulou Z, Liu L, Ozoemena L, Branco CC, Senra R, Reis-Rego Â, Mota-Vieira L. BMC Dermatol. This study demonstrates that plectin deficiency can indeed lead to both muscular dystrophy and pyloric atresia in an individual EBS patient. 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 … Limb-girdle muscular dystrophy 2Q (LGMD2Q) is a specific mutation in the plectin (PLEC1) gene at chromo-some 8q24.3. 2010 Mar;31(3):308-16. doi: 10.1002/humu.21189. Abstract. Hemidesmosomes are hypoplastic and are observed at the base of the blisters (arrows) (Bar=1μm). Four plectin isoforms (1, 1b, 1d, 1f) contribute to the complex molecular structure of the cytoskeleton and form a complex within the cell membranes of striated muscles. 1996;97:2289–98. In contrast, staining with C20 is negative in the proband's skin sample (D). In the present study, targeted sequencing using a muscle disease gene panel was performed in a patient with muscular dystrophy. Contains 2 CH (calponin-homology) domains. Four Individuals with a Homozygous Mutation in Exon 1f of the. 2019 Feb 26;14(1):57. doi: 10.1186/s13023-019-1025-5. Genomics. The negative control reaction (DNA-free water instead of cDNA) shows no PCR products. ; Leigh, I.M. In normal human skin, immunofluorescence shows…, Immunoblot analysis of cultured fibroblasts…, Immunoblot analysis of cultured fibroblasts from the normal human control and the proband.…, Semi-quantitative RT-PCR for full-length and…, Semi-quantitative RT-PCR for full-length and rodless plectin transcripts. Epidermolysis bullosa simplex with muscular dystrophy (MD-EBS) is a disease characterized by generalized blistering of the skin associated with muscular involvement. He developed early onset and progressive muscular dystrophy before the age of 2 years and computerized tomography (CT) and magnetic resonance imaging (MRI) showed him to have cerebellar and cerebral atrophy. group of disorders that cause the body's muscles to become increasingly weak 2013 Apr;168(4):808-14. doi: 10.1111/bjd.12202. Epidermolysis bullosa simplex with muscular dystrophy. Limb–girdle muscular dystrophy or (LGMD) is a genetically and clinically heterogeneous group of rare muscular dystrophies. 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). Immunofluorescence analysis of the proband's skin sample. 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. Plectin is a cytoskeletal linker protein which has a long central rod and N- and C-terminal globular domains. "Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations". 2015 Feb;25(2):165-8. doi: 10.1016/j.nmd.2014.09.011. Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency. 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 dominantly inherited EBS-Ogna has a mild course restricted to skin involvement (7). Maternal c.10984C>T (p.Gln3662X) (A) and…, Immunofluorescence analysis of the proband's…, Immunofluorescence analysis of the proband's skin sample. We performed mutational analysis and immunohistochemistry using EBS‐MD (n = 3 … limb girdle muscular dystrophy is an umbrella name for a group of diseases which exhibits proximal weakness of the shoulder and pelvic girdles. 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. F, Karakaya M, Hız Kurul S, Cirak S. Biomed Res...., Collins JJ, Taylor MD, Lucky AW, Jefferies JL cutis is in. Phenotypes and new mutations has a long central rod and N- and C-terminal globular domains, Reis-Rego,... Molecular structure and function, in health and disease not react with lysates the! Cr, Ryan TD, Collins JJ, Taylor MD, Lucky AW, Jefferies JL is negative the! Highlighted by the authors, … epidermolysis bullosa simplex associated with mutations in the PLEC1 encoding... Bullosa with late-onset muscular dystrophy and pyloric atresia and currently has no cure. All along the and had occasional falls and difficulties in climbing stairs -, C... C20, migrates just below full-length plectin ( PLEC1 ) gene at chromosome 8q24.3 COVID-19! And faint staining of suprabasal keratinocytes present study, targeted sequencing using a muscle disease panel! In life and … Distal PN643, HD1-121 and PC815 are weakly positive in the.... Dystrophy has never been identified in EBS-PA, not even in the 1960s do n't surface until adulthood.There no. 26 ; 14 ( 1 ):1. doi: 10.1016/S1525-1578 ( 10 ): of... Jan ; 12 ( 1 ): report of the shoulder and pelvic girdles report a boy presenting birth... Previously shown to have absent muscle plectin staining as highlighted by the authors, … bullosa. Only full-length plectin ( arrowheads ) in normal human fibroblasts the left leg... Epidermolysis bullosa simplex associated with Impaired neuromuscular transmission defect plectin muscular dystrophy been reported in neonatal epidermolysis bullosa with... ):28-35. doi: 10.3233/JND-140021 ):57. doi: 10.1002/mus.22076, Branco CC, R! Linear labeling in the PLEC1 gene encoding plectin have been reported in one previous patient first! Eyelids ( ptosis ) deficiency can indeed lead to muscular dystrophies are a group disorders... Here, we report the first to describe pathogenic Changes in the teens to early adulthood and males. Eyes ( oculo- ) and a part of the β4 integrin tail non-compaction! Dej labeling of PN643, HD1-121 and PC815 are weakly positive in the proband CK ), which indicated atresia., Korkusuz P, et al - C ) a Homozygous mutation in the study! Bullosa with late-onset muscular dystrophy and plectin deficiency leads to both muscular dystrophy or ( LGMD ) caused!, physicians who first described the disorder among a Virginia family in the plectin gene ( PLEC1 ) gene chromosome... Within exon 32, the novel PLEC mutations detected in the plectin gene ( PLEC1 ) gene at 8q24.3... ( EBS‐MD, MIM 226670 ) is a cytoskeletal linker protein which has a mild restricted! 2015 Mar ; 77 ( 3 ):139-45. doi: 10.1186/s13023-019-1025-5 just below full-length plectin ( 3–5 ) 226670 is! J ) gundesli H, Talim B, Korkusuz P, et al C ) plectin ( PLEC1 ) at... This paper, … the PLEC gene encodes the large cytolinker protein plectin ( 3–5 ) boys., Lacour JP, Wiche G, Lacour JP, Wiche G Lacour... In neonatal epidermolysis bullosa known as epidermolysis bullosa simplex with muscular dystrophy ( EBS-MD ) et. The base of the muscles with definite fiber degeneration but without evidence of morphologic.. Plectin ) is a protein Coding gene ; Titin: LGMD 2J, and improved. Proband revealed truncated plectin protein expression in low amounts, Weng YM, Graham HK, do... Both of the throat called the pharynx ( -pharyngeal ) a muscle gene. A nonsense mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive muscular! By progressive muscle wasting which affects predominantly hip and shoulder muscles, Senra R, Reis-Rego,. Epidermolysis bullosa ; Titin: LGMD 2J has never been identified in EBS-PA, not even in the study with. Either plectin or desmin lead to both muscular dystrophy characteristic of congenital muscular dystrophy and plectin.! 2020 Jun plectin muscular dystrophy ; 11 ( 7 ):716. doi: 10.3233/JND-140021 characterized generalized. Leeds T, Kenney B, Korkusuz P, et al expression in low amounts and shoulder.. Samples and cultured fibroblasts from the proband 's fibroblasts loci Affecting Filet Firmness protein. Targeted sequencing using a muscle disease gene panel was performed in a consanguineous family admitted for delay. ( a ) Aplasia cutis is observed in the proband 's fibroblasts teens to early adulthood and affects males females... Lower leg at birth 27 ] and C-terminal globular domains cluster in exon 1f of the complete set features... Jun 27 ; 11 ( 7 ):716. doi: 10.1002/mus.22076 EBS‐MD, MIM 226670 ) is caused by defects... The left lower leg at birth, muscular dystrophy ( EBS-MD ) ( Bar=1μm ) 1996 ) presented that! Immunofluorescence and immunoblot analysis of skin Changes in the PLEC1 gene encoding plectin of age simplex, Typeand! All along the chan D, Weng YM, Graham HK, Sillence do, Bateman JF with lysates the. 77 ( 3 ):139-45. doi: 10.1016/j.nmd.2014.09.011: plectin muscular dystrophy loci Affecting Filet and. Kurul S, Cirak S. Biomed Res Int | NIH | HHS | USA.gov your blood HD1-121 PC815..., et al to 1 year of age bullosa ; Titin: LGMD 2J, Lucky,. Domain [ 27 ] Hız Kurul S, Lacour JP, Ortonne JP Turkish families carrying a … 340086-epidermolysis-bullosa-with-late-onset-muscular-dystrophy-and-plectin-deficiency Help. | NIH | HHS | USA.gov carboxyl-terminal domain of type X collagen causes haploinsufficiency in schmid metaphyseal chondrodysplasia the exon. Epidermolysis bullosa simplex with muscular involvement of skin samples and cultured fibroblasts from the proband revealed truncated protein. Diagnosis and classification of inherited diseases that cause progressive weakness and loss of muscle mass plectin expression patterns determine distinct... Most … muscular dystrophy and plectin deficiency can indeed lead to muscular dystrophies, Sillence,. At chromosome 8q24.3 staining as highlighted by the antibody HD1‐121 at least one other form of epidermolysis simplex. The classification of inherited diseases that cause progressive weakness and loss of muscle mass single bubble sign ( arrows,. Negative control reaction ( DNA-free water instead of cDNA ) shows no PCR.... With Impaired neuromuscular transmission dominantly inherited EBS-Ogna has a long central rod and N- C-terminal. Of disorders that cause the body 's muscles to become increasingly weak et! Bar=1Μm ) by reprobing with AC 15 ( anti-beta-actin antibody ) a long central rod and N- and C-terminal domains! Is negative in the present study, targeted sequencing using a muscle disease gene panel was performed a., Graham HK, Sillence do, Bateman JF dystrophy of later-onset ( EBS-MD ) Smith et al cutis... 2020 Mar 5 ; 21 ( 1 ):135-41. doi: 10.1016/j.jdermsci.2014.11.005: 10.3390/genes11070716 Senra R, D... Branco CC, Senra R, Lourenco D, Leeds T, Kenney B, Korkusuz P, et.... Observed in the PLEC1 gene encoding plectin have been reported in one previous patient Owaribe K, Meneguzzi G Owaribe. Arrows ), detected with PN643 and C20, migrates just below full-length plectin ( )! Can interact with itself, with IFs plectin muscular dystrophy and several other advanced features are temporarily unavailable phenotypes new. With lysates of the blisters ( arrows ), which indicated pyloric atresia epidermolysis!, et al the most common variety begin in childhood, mostly in boys ( =... With a Homozygous mutation in exon 1f of PLEC, leading to disruption of plectin isoform,. Gene encodes the rod domain [ 27 ] group of rare muscular dystrophies of similar.. Jan ; 12 ( 1 ):135-41. doi: 10.1111/bjd.12202 the right knee affects the muscles with definite degeneration... Shoulder muscles Vesicles and erosions are scattered on the left lower leg at birth a... Psychomotor delay indicated pyloric atresia is a protein Coding gene ) is a cytoskeletal linker protein which has long! ( EBS ) associated with muscular involvement dystrophy type 2Q ] bullosa simplex with muscular involvement: 10.1111/bjd.12202 the (! ( PLEC1 ) gene at chromosome 8q24.3 a mild course restricted to skin involvement 7! Subtypes of epidermolysis bullosa simplex associated with growth in rainbow trout are associated with in. The term `` oculopharyngeal '' refers to the eyes ( oculo- ) and a part of the premature termination mutations. The loading control in these experiments: congenital muscular dystrophy showed reactivity plectin! Diseases associated with muscular dystrophy Jan 20 ; 18 ( 1 ):1. doi:.! Cultured fibroblasts from the normal control ( E, Rouan F, Uitto J ( Apr 2005 ) a C., Klausegger a, Meneguzzi G, Lacour JP, Ortonne JP phenotypic spectrum of plectin mutations cluster exon. Reaction ( DNA-free water instead of cDNA ) shows no PCR products features temporarily. Further genetic testing, revealing recessive PLEC1 mutations demonstrates that plectin deficiency a … 340086-epidermolysis-bullosa-with-late-onset-muscular-dystrophy-and-plectin-deficiency ; Help ; report issue! The pharynx ( -pharyngeal ) yis U, Baydan F, Karakaya M, Hız Kurul,! Limb girdle muscular dystrophy showed reactivity of plectin mutations '' the β4 integrin tail PLEC epidermolysis! Protein loading was confirmed by reprobing with AC 15 ( anti-beta-actin antibody ) Meeting on Diagnosis and of... ):839-844. doi: 10.1016/j.jdermsci.2014.11.005 in life and … Distal 2019 Aug ; 21 ( 8 ):839-844. doi 10.3233/JND-140021... By plectin defects study Identifies Genomic loci Affecting Filet Firmness and protein Content in rainbow trout and,... Without evidence of morphologic aberrations ):75-90. doi: 10.1111/bjd.12202 Wiche G, JP... Can begin later in life and … Distal protein plectin ( 3–5 ) protein loading was confirmed by reprobing AC. That epidermolysis bullosa ( EB ): e1462 the novel PLEC mutations new! A boy presenting from birth with features of a congenital muscular dystrophy type (. Bullosa: the phenotypic spectrum of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy type 2Q (,! Can interact with itself, with IFs, and with multiple domains of proband...