Ichthyosis and erythrokeratoderma
Gene: DSG1
Comment when marking as ready: Green rating is agreed by Helen Brittain- enough cases, reflected by PMID:27534273.Created: 3 Apr 2017, 9:03 a.m.
Comment on list classification: Updated rating from red to green: > 3 DSG1 heterozygous variants (>3 cases) listed in OMIM for palmoplantar keratoderma I, striata (PPKS1, OMIM:148700) from various populations (Dutch, German, Jewish Yemenite, Pakistani). 2 DSG1 homozygous mutations listed in OMIM for 'Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE' (OMIM:615508); both from consanguineous families. In both cases, parents, who were heterozygous for the mutation, displayed palmoplantar hyperkeratosis.Created: 23 Mar 2017, 10:14 a.m.
PMID:27534273 (Lovgren et al., 2016) report seven unrelated pedigrees with dominantly inherited PPK due to mutations in the DSG1 gene, with marked phenotypic variation. Mutation analysis identified one recurrent (c.76C>T, p.Arg26*) and five novel DSG1 mutations.Created: 5 Jan 2017, 5:13 p.m.
Comment on mode of inheritance: Mode of inheritance sourced from OMIM: DSG1 is biallelic for 'Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE' OMIM:615508 and monoallelic for 'Keratosis palmoplantaris striata I, AD' (OMIM:148700).Created: 5 Jan 2017, 12:06 p.m.
Phenotypes for gene: DSG1 were changed from Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508; Keratosis palmoplantaris striata I, AD, 148700 to Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, OMIM:615508; Keratosis palmoplantaris striata I, AD, OMIM:148700
gene: DSG1 was added gene: DSG1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: DSG1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DSG1 were set to 27534273 Phenotypes for gene: DSG1 were set to Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508; Keratosis palmoplantaris striata I, AD, 148700