Ichthyosis and erythrokeratodermaGene: CAST
Comment on phenotypes: punctate keratoderma; knuckle pads; PLACK syndrome
Created: 11 Apr 2017, 1:30 p.m.
Comment on list classification: Updated rating from Grey to Green: 1 Green review (by gene submitter) and 3 unrelated cases of PPK phenotype reported in 3 unrelated families of different ethnic origins in PMID:25683118.
Created: 20 Mar 2017, 5:20 p.m.
Comment on mode of inheritance: Mode of inheritance suggested by reviewer and supported by PMID:25683118.
Created: 20 Mar 2017, 5:18 p.m.
Lin et al., (2015, PMID:25683118): In affected individuals with PLACK syndrome (peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads) from 3 families of different ethnicities (Chinese, Nepalese, European), they identified homozygous mutations (c.607dup, c.424A>T, and c.1750delG) in the CAST gene, all of which were predicted to encode truncated proteins (p.Ile203Asnfs∗8, p.Lys142∗, and p.Val584Trpfs∗37).
Created: 20 Mar 2017, 5:17 p.m.
Rare: 3 reported families.
Created: 14 Mar 2017, 7:51 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
punctate keratoderma; peeling skin; knuckle pads; cheilitis; leukonychia
gene: CAST was added gene: CAST was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: CAST was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CAST were set to Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads 616295