ArticleGenomics2012
Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome.
Article in Genomics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 57 citations in OpenAlex.
- Desmosomal-Type Acantholysis-A New Histologic Pattern Related to Mutations of Genes for Desmosomal Proteins.Dermatopathology (Basel, Switzerland) · 2026Article
- Comparative Analysis of mRNA and lncRNA Expression Profiles in Testicular Tissue of Sexually Immature and Sexually Mature Mongolian Horses.Animals : an open access journal from MDPI · 2024Article
- The spotted parrotfish genome provides insights into the evolution of a coral reef dietary specialist (Teleostei: Labridae: Scarini:Ecology and evolution · 2024Article
- Next-generation sequencing in dermatology.Frontiers in medicine · 2023Review
- Targeted NGS in Diagnostics of Genodermatosis Characterized by the Epidermolysis Bullosa Symptom Complex in 268 Russian Children.International journal of molecular sciences · 2022Article
- JMJD3 intrinsically disordered region links the 3D-genome structure to TGFβ-dependent transcription activation.Nature communications · 2022Article
- Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp.The Journal of dermatology · 2020Article
- Filaggrin 2 Deficiency Results in Abnormal Cell-Cell Adhesion in the Cornified Cell Layers and Causes Peeling Skin Syndrome Type A.The Journal of investigative dermatology · 2018Article
- Article
- Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis.International journal of molecular medicine · 2016Article
- Epidermal barrier disorders and corneodesmosome defects.Cell and tissue research · 2015Review
- Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.American journal of human genetics · 2015Article
- A Case of Inflammatory Generalized Type of Peeling Skin Syndrome Possibly Caused by a Homozygous Missense Mutation of CDSN.Case reports in dermatology · 2014Article
- Exome sequencing greatly expedites the progressive research of Mendelian diseases.Frontiers of medicine · 2014Review
- The application of next-generation sequencing in the autozygosity mapping of human recessive diseases.Human genetics · 2013Review
- A Case of Peeling Skin Syndrome.Indian dermatology online journalArticle
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
Generalized peeling skin syndrome (PSS) is an autosomal recessive genodermatosis characterized by lifelong, continuous shedding of the upper epidermis. Using whole-genome homozygozity mapping and whole-exome sequencing, we identified a novel homozygous missense mutation (c.229C>T, R77W) within the CHST8 gene, in a large consanguineous family with non-inflammatory PSS type A. CHST8 encodes a Golgi transmembrane N-acetylgalactosamine-4-O-sulfotransferase (GalNAc4-ST1), which we show by immunofluorescence staining to be expressed throughout normal epidermis. A colorimetric assay for total sulfated glycosaminoglycan (GAG) quantification, comparing human keratinocytes (CCD1106 KERTr) expressing wild type and mutant recombinant GalNAc4-ST1, revealed decreased levels of total sulfated GAGs in cells expressing mutant GalNAc4-ST1, suggesting loss of function. Western blotting revealed lower expression levels of mutant recombinant GalNAc4-ST1 compared to wild type, suggesting that accelerated degradation may result in loss of function, leading to PSS type A. This is the first report describing a mutation as the cause of PSS type A.
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Registered trials
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