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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...

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Autores principales: Tella, Sunitha, Sultana, Shehnaz, Madireddy, Sujatha, Nallari, Pratibha, Ananthapur, Venkateshwari
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2022
Materias:
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.
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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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