ArticleHuman mutation2010
Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex.
Article in Human mutation, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 60 citations in OpenAlex.
- Mechanics of cell sheets: plectin as an integrator of cytoskeletal networks.Open biology · 2025Review
- Pyloric Atresia in a Neonate With Epidermolysis Bullosa: A Case Report.Clinical case reports · 2024Article
- Identification ofAnimal biotechnology · 2024Article
- Expanding the Clinical Phenotype of PLECTIN-Related Plectinopathies.Iranian journal of public health · 2024Article
- Application of whole exome sequencing in the diagnosis of muscular disorders: a study of Taiwanese pediatric patients.Frontiers in genetics · 2024Article
- Mutation update: The spectra of PLEC sequence variants and related plectinopathies.Human mutation · 2022Article
- Epidermolysis Bullosa-A Different Genetic Approach in Correlation with Genetic Heterogeneity.Diagnostics (Basel, Switzerland) · 2022Review
- Epidermolysis Bullosa With Congenital Absence of Skin: Congenital Corneal Cloudiness and Esophagogastric Obstruction Including Extended Genotypic Spectrum ofFrontiers in genetics · 2022Article
- Article
- Muscle-Related Plectinopathies.Cells · 2021Review
- Genome-wide identification of loci associated with growth in rainbow trout.BMC genomics · 2020Article
- Skeletal muscle: A review of molecular structure and function, in health and disease.Wiley interdisciplinary reviews. Systems biology and medicine · 2020Review
- [Research advances in limb-girdle muscular dystrophy type 2Q].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2019Review
- Genome-Wide Association Study Identifies Genomic Loci Affecting Filet Firmness and Protein Content in Rainbow Trout.Frontiers in genetics · 2019Article
- A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report.BMC dermatology · 2018Article
- Transcriptomic Profiling of Egg Quality in Sea Bass (Dicentrarchus labrax) Sheds Light on Genes Involved in Ubiquitination and Translation.Marine biotechnology (New York, N.Y.) · 2017Article
- Epidermolysis bullosa simplex with muscular dystrophy. Review of the literature and a case report.Journal of dermatological case reports · 2016Review
- Plakins, a versatile family of cytolinkers: roles in skin integrity and in human diseases.The Journal of investigative dermatology · 2014Review
- Plectin-intermediate filament partnership in skin, skeletal muscle, and peripheral nerve.Histochemistry and cell biology · 2013Review
- Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly.American journal of human genetics · 2013Article
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Plectin is a cytoskeletal linker protein which has a long central rod and N- and C-terminal globular domains. 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). 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. However, muscular dystrophy has never been identified in EBS-PA, not even in the severe form of the disease. Here, we report the first case of EBS associated with both pyloric atresia and muscular dystrophy. Both of the premature termination codon-causing mutations of the proband are located within exon 32, the last exon of PLEC. Immunofluorescence and immunoblot analysis of skin samples and cultured fibroblasts from the proband revealed truncated plectin protein expression in low amounts. This study demonstrates that plectin deficiency can indeed lead to both muscular dystrophy and pyloric atresia in an individual EBS patient.
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