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...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2022-01-01
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| Series: | Indian Journal of Dermatology |
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| Online Access: | http://www.e-ijd.org/article.asp?issn=0019-5154;year=2022;volume=67;issue=1;spage=45;epage=49;aulast=Tella |
| _version_ | 1818009952058343424 |
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| author | Sunitha Tella Shehnaz Sultana Sujatha Madireddy Pratibha Nallari Venkateshwari Ananthapur |
| author_facet | Sunitha Tella Shehnaz Sultana Sujatha Madireddy Pratibha Nallari Venkateshwari Ananthapur |
| author_sort | Sunitha Tella |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-04-14T05:49:22Z |
| format | Article |
| id | doaj.art-4589e7971df648c89c6a186dedf8e80c |
| institution | Directory Open Access Journal |
| issn | 0019-5154 1998-3611 |
| language | English |
| last_indexed | 2024-04-14T05:49:22Z |
| publishDate | 2022-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Indian Journal of Dermatology |
| spelling | doaj.art-4589e7971df648c89c6a186dedf8e80c2022-12-22T02:09:10ZengWolters Kluwer Medknow PublicationsIndian Journal of Dermatology0019-51541998-36112022-01-01671454910.4103/ijd.ijd_880_20Epidermolysis bullosa: A report of three cases with novel heterozygous deletions in PLEC and homozygous non sense mutations in COL7A1 genesSunitha TellaShehnaz SultanaSujatha MadireddyPratibha NallariVenkateshwari AnanthapurEpidermolysis 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.http://www.e-ijd.org/article.asp?issn=0019-5154;year=2022;volume=67;issue=1;spage=45;epage=49;aulast=Tellaautosomal recessivecol17aepidermolysis bullosaplecskin blistering |
| spellingShingle | Sunitha Tella Shehnaz Sultana Sujatha Madireddy Pratibha Nallari Venkateshwari Ananthapur Epidermolysis bullosa: A report of three cases with novel heterozygous deletions in PLEC and homozygous non sense mutations in COL7A1 genes Indian Journal of Dermatology autosomal recessive col17a epidermolysis bullosa plec skin blistering |
| 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 | autosomal recessive col17a epidermolysis bullosa plec skin blistering |
| url | http://www.e-ijd.org/article.asp?issn=0019-5154;year=2022;volume=67;issue=1;spage=45;epage=49;aulast=Tella |
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