Ichthyosis and erythrokeratoderma

Gene: DSG1

Green List (high evidence)

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.