Epidermolysis bullosa and congenital skin fragility
Gene: DSG3The rating of this gene has been updated from Amber to Red following NHS Genomic Medicine Service approval.Created: 29 Jul 2022, 1:47 p.m. | Last Modified: 29 Jul 2022, 1:47 p.m.
Panel Version: 1.53
One individual with recurrent blisters and erosions in the oral mucosa since birth homozygous for p(.R287*). The relationship with pemphigus is disputed if not refuted.Created: 11 Aug 2020, 2:01 a.m. | Last Modified: 11 Aug 2020, 2:01 a.m.
Panel Version: 1.3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucosal blistering
Publications
Kim et al (PMID: 30528827) identified a1-year-old Korean girl having recurrent blisters and erosions in the oral mucosa since birth, who had a single homozygous mutation in the DSG3 gene (chromosome 18: 29,041,235 for c.859C>T). Both parents were found to be hetrozygous.
DSG3 also associated with Pemphigus vulgaris (PV) a severe blistering disorder of the skin and mucous membranes. Capon et al (PMID: 16403096) provided evidence of an association between desmoglein 3 haplotypes and pemphigus vulgaris however in a later paper from the same group (PMID: 19678820) concluded that DSG3 coding variants don't play a role in PV susceptibility and that any association that was detected was due to the presence of regulatory rather than coding SNPs.Created: 17 Sep 2019, 6:42 p.m. | Last Modified: 17 Sep 2019, 6:43 p.m.
Panel Version: 0.15
This gene was part of a gene list collated by John McGrath, KCL and Veronica Kinsler, UCL, 17.Jun.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted:DSG3; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 9 Sep 2019, 3:38 p.m. | Last Modified: 9 Sep 2019, 3:38 p.m.
Panel Version: 0.15
Publications
DSG3 should be a new green gene as there is a published case with mucosal fragilityCreated: 10 Jan 2019, 9:38 a.m.
Source Expert Review Red was added to DSG3. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Phenotypes for gene: DSG3 were changed from mucosal fragility to Blistering, acantholytic, of oral and laryngeal mucosa, OMIM:619226
Publications for gene: DSG3 were set to
Source Expert Review Amber was added to DSG3. Mode of inheritance for gene DSG3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
gene: DSG3 was added gene: DSG3 was added to Epidermolysis bullosa and congenital skin fragility. Sources: NHS GMS Mode of inheritance for gene: DSG3 was set to Phenotypes for gene: DSG3 were set to mucosal fragility