Reproductive alternatives for patients with dystrophic epidermolysis bullosa

Christofolini, Denise Maria; Ceroni, José Ricardo Magliocco; Soares, Giovanna Guimarães; Lamy, Gustavo B.; Calvo, Ana Carolina Nemeth; Santos, Tamara Alba dos; Sonoda, Bianca Del Bel; Bianco, Bianca; Barbosa, Caio Parente

doi:10.31744/einstein_journal/2019rc4577

Cited by 3 publications

(2 citation statements)

References 7 publications

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“…As the knowledge of the genotype is absolutely necessary for such selected cases, once again we highlight that immunomapping alone would provide insu cient information in order to decide if each patient is eligible or not for speci c treatment. On a nal note, considering the growing availability and demand of IVF (in vitro fertilization) 12 , genetic diagnosis of EB also becomes all the more necessary.…”

Section: Discussionmentioning

confidence: 99%

Advantages of whole-exome sequencing over immunomapping in 67 Brazilian patients with Epidermolysis bullosa

Stephan

Barbosa

Polastrin

et al. 2023

Preprint

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Background: Epidermolysis bullosa (EB) is characterized by skin fragility and blistering. In Brazil, the diagnosis is usually obtained through immunomapping, which involve skin biopsy procedures. Most recently, Whole Exome Sequencing (WES) has become an important tool for the diagnosis of the subtypes of EB, providing information on prognosis as well as allowing appropriate genetic counseling for the families. Objective: To compare the results of immunomapping and molecular analysis and to describe the characteristics of a Brazilian cohort of patients with EB. Methods: Patients were submitted to clinical evaluation and WES using peripheral blood samples. WES results were compared to those obtained from immunomapping testing by skin biopsy. Results: 67 patients from 60 families were classified: 47 patients with recessive dystrophic EB (DEB), 4 with dominant DEB, 15 with EB simplex (EBS) and 1 with junctional EB (JEB). Novel causative variants were: 10/60 (16%) in COL7A1associated with recessive DEB and 3 other variants in dominant DEB; one homozygous variant in KRT5 and another homozygous variant in PLEC, both associated with EBS. Immunomapping was available for 59 of the 67 patients and the result was concordant with exome results in 37 (62%), discordant in 13 (22%) and inconclusive in 9 patients (15%). Conclusion: Although immunomapping has been useful in services where molecular studies are not available, this invasive method may provide a misdiagnosis or an inconclusive result in more than 1/3 of the patients. This study shows that WES is an effective method to the diagnosis and genetic counseling of EB patients.

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Section: Discussionmentioning

confidence: 99%

Advantages of whole-exome sequencing over immunomapping in 67 Brazilian patients with Epidermolysis bullosa

Stephan

Barbosa

Polastrin

et al. 2023

Preprint

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“…[5][6][7][8][9] EB has four main types including simplex, junctional, dystrophic, and Kindler. 10,11 Recessive dystrophic epidermolysis bullosa (RDEB) is the most severe type of the disease. Children with RDEB are usually affected since birth and, in most cases, blisters virtually cover all the body and the patients who survive childhood frequently develop squamous cell carcinoma (SCC).…”

Section: Introductionmentioning

confidence: 99%

Comparing COL7A1 gene expression in fibroblast cells of dystrophic epidermolysis bullosa patients with clinical responses to autologous fibroblasts transplantation

Eslami¹,

Golshanfard²,

Bajouri³

et al. 2023

J. Contemp. Med. Sci.

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Objectives: This clinical research aimed to establish autologous fibroblasts transplantation as a possible treatment for patients with DEJ. The COL7A1 gene expression was also evaluated. Methods: Six patients (3M and 3F), 4 with no recurrent wounds and 2 with recurrent wounds after surgery, and 15 healthy subjects were included in the study as controls. Quantitative real-time polymerase chain reaction (real-time PCR) analysis of the COL7A1 gene was performed using an oligonucleotide primer pair designed to amplify across the exon/exon junction. Results: The COL7A1 expression level was down-regulated at exons 26-27, 47-48, 96-97, and 116-117 in all patients′ fibroblasts compared with the healthy controls. However, the expression of the COL7A1 gene in the fibroblasts of the patients with a positive response to the treatment was not significantly changed compared with the patients with the poor response. (ClinicalTrials.gov NCT01908088) Conclusion: In this study the mRNA expression levels of COL7A1 were significantly less in the patients when compared with healthy controls. However the COL7A1 expression after autologous fibroblasts transplantation was not different between the two groups of patients, and further examination is needed to elucidate the mechanism of the treatment.

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