Ichthyosis and erythrokeratoderma

Gene: KDSR

Comment on publications: Additional case reported in PMID:34686882.

Created: 10 Feb 2023, 9:58 a.m. | Last Modified: 10 Feb 2023, 9:58 a.m.

Panel Version: 2.13

Comment on list classification: Updated rating from Red to Green: Although not yet curated in DD-G2P, 4 unrelated compound heterozygous cases of erythrokeratoderma phenotype reported in PMID:28575652.

Created: 17 Aug 2017, 11:34 a.m.

Added to panel after new gene/phenotype relationship added in OMIM. New evidence is based on PMID:28575652 (Boyden et al., 2017) who identified compound heterozygosity for variants in the KDSR in 4 unrelated patients with EKVP4 (MIM:617526). In 2 of the patients, the second variant was a 346-kb inversion that replaces the upstream promoter, 5-prime UTR, start codon, and first 2 exons of the KDSR gene with unrelated sequence. 3 of the patients harboured a silent Q293Q variant (c.8796-A) which resulted in exon skipping and loss of exon 9. In each of the 4 cases, the proband's unaffected parents were each heterozygous for one of the variants. The article states that all patients were unrelated, but doesn't give ethnicity/geographical information.

Created: 17 Aug 2017, 11:33 a.m.

Comment on mode of inheritance: Biallelic MOI confirmed by OMIM and PMID:28575652

Created: 17 Aug 2017, 11:28 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Erythrokeratodermia variabilis et progressiva 4, 617526

Publications

• 28575652