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Epidermolysis Bullosa: A Report of Three Cases with Novel Heterozygous Deletions in PLEC and Homozygous Non sense Mutations in COL7A1 Genes
Epidermolysis bullosa (EB) is a group of rare inherited conditions that results in blistering of the skin and mucous membranes. Mutations in the PLEC gene cause epidermolysis bullosa simplex (EBS). Mutations in type VII collagen, encoded by COL7A1 lead to epidermolysis bullosa dystrophica (EBD). The...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Wolters Kluwer - Medknow
2022
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9154161/ https://www.ncbi.nlm.nih.gov/pubmed/35656234 http://dx.doi.org/10.4103/ijd.ijd_880_20 |
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author | Tella, Sunitha Sultana, Shehnaz Madireddy, Sujatha Nallari, Pratibha Ananthapur, Venkateshwari |
author_facet | Tella, Sunitha Sultana, Shehnaz Madireddy, Sujatha Nallari, Pratibha Ananthapur, Venkateshwari |
author_sort | Tella, Sunitha |
collection | PubMed |
description | Epidermolysis bullosa (EB) is a group of rare inherited conditions that results in blistering of the skin and mucous membranes. Mutations in the PLEC gene cause epidermolysis bullosa simplex (EBS). Mutations in type VII collagen, encoded by COL7A1 lead to epidermolysis bullosa dystrophica (EBD). The report presents three autosomal recessive cases, one with epidermolysis bullosa simplex (EBS) with nail and muscular dystrophy showing heterozygous single base pair deletion in exon 31 (chr8:144998220delC; c. 6288del; p. Arg2097AlafsTer55) and a heterozygous two base pair deletion in exon 27 (chr8:145001693_145001694delCT; c. 4054_4055del; p. Ser1352CysfsTer68) of PLEC gene. Two cases of epidermolysis bullosa dystrophica (EBD), with a novel homozygous, nonsense mutations in exon 54 (c. 5047C > T) and exon 104 (c. 7762C > T) of COL7A1 gene. The findings of the case report, provide evidence for additional molecular heterogeneity, in epidermolysis bullosa and also emphasize the significance of PLEC and COL7A1 gene mutations in epidermolysis bullosa. |
format | Online Article Text |
id | pubmed-9154161 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Wolters Kluwer - Medknow |
record_format | MEDLINE/PubMed |
spelling | pubmed-91541612022-06-01 Epidermolysis Bullosa: A Report of Three Cases with Novel Heterozygous Deletions in PLEC and Homozygous Non sense Mutations in COL7A1 Genes Tella, Sunitha Sultana, Shehnaz Madireddy, Sujatha Nallari, Pratibha Ananthapur, Venkateshwari Indian J Dermatol Case Report Epidermolysis bullosa (EB) is a group of rare inherited conditions that results in blistering of the skin and mucous membranes. Mutations in the PLEC gene cause epidermolysis bullosa simplex (EBS). Mutations in type VII collagen, encoded by COL7A1 lead to epidermolysis bullosa dystrophica (EBD). The report presents three autosomal recessive cases, one with epidermolysis bullosa simplex (EBS) with nail and muscular dystrophy showing heterozygous single base pair deletion in exon 31 (chr8:144998220delC; c. 6288del; p. Arg2097AlafsTer55) and a heterozygous two base pair deletion in exon 27 (chr8:145001693_145001694delCT; c. 4054_4055del; p. Ser1352CysfsTer68) of PLEC gene. Two cases of epidermolysis bullosa dystrophica (EBD), with a novel homozygous, nonsense mutations in exon 54 (c. 5047C > T) and exon 104 (c. 7762C > T) of COL7A1 gene. The findings of the case report, provide evidence for additional molecular heterogeneity, in epidermolysis bullosa and also emphasize the significance of PLEC and COL7A1 gene mutations in epidermolysis bullosa. Wolters Kluwer - Medknow 2022 /pmc/articles/PMC9154161/ /pubmed/35656234 http://dx.doi.org/10.4103/ijd.ijd_880_20 Text en Copyright: © 2022 Indian Journal of Dermatology https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms. |
spellingShingle | Case Report Tella, Sunitha Sultana, Shehnaz Madireddy, Sujatha Nallari, Pratibha Ananthapur, Venkateshwari Epidermolysis Bullosa: A Report of Three Cases with Novel Heterozygous Deletions in PLEC and Homozygous Non sense Mutations in COL7A1 Genes |
title | Epidermolysis Bullosa: A Report of Three Cases with Novel Heterozygous Deletions in PLEC and Homozygous Non sense Mutations in COL7A1 Genes |
title_full | Epidermolysis Bullosa: A Report of Three Cases with Novel Heterozygous Deletions in PLEC and Homozygous Non sense Mutations in COL7A1 Genes |
title_fullStr | Epidermolysis Bullosa: A Report of Three Cases with Novel Heterozygous Deletions in PLEC and Homozygous Non sense Mutations in COL7A1 Genes |
title_full_unstemmed | Epidermolysis Bullosa: A Report of Three Cases with Novel Heterozygous Deletions in PLEC and Homozygous Non sense Mutations in COL7A1 Genes |
title_short | Epidermolysis Bullosa: A Report of Three Cases with Novel Heterozygous Deletions in PLEC and Homozygous Non sense Mutations in COL7A1 Genes |
title_sort | epidermolysis bullosa: a report of three cases with novel heterozygous deletions in plec and homozygous non sense mutations in col7a1 genes |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9154161/ https://www.ncbi.nlm.nih.gov/pubmed/35656234 http://dx.doi.org/10.4103/ijd.ijd_880_20 |
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