A novel mutation of COL7A1 in a Chinese DEB‐Pt family and review of the literature

Jin, Ling; Li, Zhi; Xin, Cong; Tang, Lili; Zhang, Xuejun; Zhang, Bo; Yang, Sen

doi:10.1111/jocd.13172

Cited by 3 publications

(8 citation statements)

References 24 publications

(10 reference statements)

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“…While topical or systemic corticosteroids or topical immunomodulators are appropriate first‐line therapies, phototherapy, etretinate, cyclosporine, thalidomide, naltrexone, and dupilumab have also been reported for PT‐DEB 1,2 . Transplantation of genetically modified epidermal stem cells and gene expression repair by spliceosome‐mediated RNA trans‐splicing has also showed promising results 4 …”

Section: Discussionmentioning

confidence: 99%

“…The presence of lichenoid and prurigo‐like lesions and excoriations, often without intact bullae, may lead to misdiagnosis and thus inadequate treatment. The differential diagnosis of PT‐DEB includes bullous lichen planus, lichen planus pemphigoides, bullous lichen sclerosus et atrophicus, prurigo nodularis, and lichen simplex chronicus 1,2 . Patients must be monitored for the potential development of squamous cell carcinoma.…”

Section: Discussionmentioning

confidence: 99%

“…The differential diagnosis of PT-DEB includes bullous lichen planus, lichen planus pemphigoides, bullous lichen sclerosus et atrophicus, prurigo nodularis, and lichen simplex chronicus. 1,2 Patients must be monitored for the potential development of squamous cell carcinoma.…”

Section: Discussionmentioning

confidence: 99%

“…Clinically, PT‐DEB is a typically mild and localized form of DEB, mainly affecting the pretibial region, with early‐ or late‐onset trauma‐induced blisters and erosions and frequent pruritic lichenoid or prurigo‐like papules and plaques with milia and nail dystrophy. PT‐DEB is caused by mutations of the COL7A1 gene (encoding for type VII collagen) that alters the anchoring structure at the dermo‐epidermal junction 1,2 …”

Section: Introductionmentioning

confidence: 99%

“…PT-DEB is caused by mutations of the COL7A1 gene (encoding for type VII collagen) that alters the anchoring structure at the dermo-epidermal junction. 1,2 Diagnosis of PT-DEB is often difficult, but can be established with clinical, histological, ultrastructural, and immunofluorescence findings and genetic testing. Currently, denaturing high-performance liquid chromatography is used to characterize COL7A1 mutations.…”

Section: Introductionmentioning

confidence: 99%

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Dominant pretibial dystrophic epidermolysis bullosa in an Italian family

Vaccaro

Guarneri

et al. 2020

Pediatric Dermatology

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We describe a case of pretibial dystrophic epidermolysis bullosa in a 5-year-old girl, her mother, and maternal great aunt. All subjects had trauma-induced blisters and erosions, with scarring, on the knees and lower legs, and nail dystrophy of variable severity. Genetic analysis in all three patients showed a 6849del18 mutation in the COL7A1 gene, causing the production of shortened collagen VII polypeptides and resulting in a mild phenotype, with localized acral blisters and nail involvement.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Dominant pretibial dystrophic epidermolysis bullosa in an Italian family

Vaccaro

Guarneri

et al. 2020

Pediatric Dermatology

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Dystrophic epidermolysis bullosa: genotype-phenotype correlations

Kubanov,

Chikin,

Karamova

2023

Vestnik dermatologii i venerologii

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Dystrophic epidermolysis bullosa is caused by mutations in the COL7A1 gene. The disease characterized by clinical heterogeneity. To date, scientific findings allow to evaluate correlations between the severity of clinical manifestations and genetic defects underlying in the development of the disease. A systematic literature search was performed using PubMed and RSCI, and keywords including dystrophic epidermolysis bullosa, collagen VII, COL7A1. The review includes description of clinical findings of dystrophic epidermolysis bullosa. The types and localization of pathogenic mutations of the COL7A1 gene, their influence on the protein synthesis, structure and functioning are characterized. The correlation between severe course of dystrophic epidermolysis bullosa and mutations resulting in premature termination codons generation which associate with the absence of type VII collagen at the dermo-epidermal junction has been described. Nevertheless, genotype-phenotype correlations should be analyzed carefully due to mechanisms which enable to restore protein expression as well as the possibility of the formation of premature termination codons associated with a more severe course of the disease, when replacing nucleotides in case of their influence on splicing. Keywords: dystrophic epidermolysis bullosa; COL7A1, collagen VII, hinge region, glycine substitutions

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Investigation of Genetic Mutations in the Exon-intron Regions of the COL7A1 Gene in five Family Case Reports with Epidermolysis Bullosa in Khuzestan Province

Ameri

Moradzadegan

2023

Gene Cell Tissue

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Background: Dystrophic Epidermolysis bullosa (DEB) is one of the EB types caused by a mutation in the COL7A1 gene, which encodes collagen type 7 and is the main component of anchoring fibrils. Objectives: This study aimed to investigate COL7A1 gene mutations in five families of patients. Khuzestan is suffering from EB. Methods: After extracting genomic DNA from peripheral blood samples of probands, COL7A1 gene screening was performed using polymerase chain reaction and direct sequencing of exons 36-37 and their adjacent introns with the Sanger sequencing method. Results: The identified mutations included a new homozygous deletion mutation in exon 36 (c.2669delC) that resulted in a change in the open reading frame. Other obtained variants are the common mutations c.4233delC and c.4233delT in exon 37, which were identified as proline substitution mutations in one mutant allele in the homozygous form and three allele mutants in the heterozygous form. Conclusions: In this study, presenting a new mutation in the COL7A1 gene is the focus of the molecular heterogeneity of DEB. In addition, the efficient identification of COL7A1 gene mutations provides more information for the accurate diagnosis and prediction of the disease, genetic counseling, and prenatal diagnosis.

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A novel mutation of COL7A1 in a Chinese DEB‐Pt family and review of the literature

Cited by 3 publications

References 24 publications

Dominant pretibial dystrophic epidermolysis bullosa in an Italian family

Dominant pretibial dystrophic epidermolysis bullosa in an Italian family

Dystrophic epidermolysis bullosa: genotype-phenotype correlations

Investigation of Genetic Mutations in the Exon-intron Regions of the COL7A1 Gene in five Family Case Reports with Epidermolysis Bullosa in Khuzestan Province

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