Epidermolysis bullosa
Gene: DSG1
PMID: 29229434
- Patient presented with palmoplantar keratoderma and skin fragility since infancy. Patient lacks allergies or metabolic wasting.
- Hom c.1892-2A>C, cDNA study using patient’s skin sample showed exon skipping resulting in frameshift and premature termination codon. Parents were carriers and not known to be affected.Created: 10 Dec 2021, 1:14 a.m. | Last Modified: 10 Dec 2021, 1:14 a.m.
Panel Version: 1.1
Publications
Variants in this GENE are reported as part of current diagnostic practice
skin blistering and/or fragility reported in 2 probands
PMID: 19558595;
- 40-yr old man presented with painful thickening of the skin on his palms and soles, hyperhidrosis and intermittent associated blistering, since childhood
- heterozygous p.(Arg144*)
PMID: 23974871;
(authors are calling it SAM syndrome)
- 2 families in this report with 1 individual presenting with skin erosions and scaling homozygous for c.49–1G>A
Sources: LiteratureCreated: 10 Aug 2020, 5:45 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, AR (MIM#615508); Keratosis palmoplantaris striata I, AD (MIM# 148700)
Publications
Publications for gene: DSG1 were set to 19558595; 23974871; 29229434
Publications for gene: DSG1 were set to 19558595; 23974871
Gene: dsg1 has been classified as Green List (High Evidence).
Gene: dsg1 has been classified as Amber List (Moderate Evidence).
Gene: dsg1 has been classified as Amber List (Moderate Evidence).
gene: DSG1 was added gene: DSG1 was added to Epidermolysis bullosa. Sources: Literature Mode of inheritance for gene: DSG1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DSG1 were set to 19558595; 23974871 Phenotypes for gene: DSG1 were set to Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, AR (MIM#615508); Keratosis palmoplantaris striata I, AD (MIM# 148700) Penetrance for gene: DSG1 were set to unknown Review for gene: DSG1 was set to AMBER