Peeling skin syndrome

Gene: CAST

Comment when marking as ready: Expert review for CAST is green and >3 cases in OMIM.

Created: 5 Dec 2016, 10:14 a.m.

Comment on list classification: Updated rating from Red to Green: Expert review for CAST is green, and >3 cases in OMIM (4 individuals from 3 families of different ethnic origin).

Created: 2 Dec 2016, 10:54 a.m.

Mode of Inheritance (autosomal recessive) confirmed by OMIM based on PMID:25683118 (Lin et al. (2015). PMID:25683118 identified loss-of-function mutations in CAST from three families of different ethnicities:

In a 28-year-old Chinese woman (individual 1) with OMIM:616295, Lin et al. (2015) identified homozygosity for a 1-bp duplication, c.607dup (rs786205140) in CAST, causing a frameshift and premature termination codon (Ile203AsnfsTer8).

In a Nepalese woman (individual 2) with OMIM:616295, Lin et al. (2015) identified homozygosity for a c.424A-T transversion (rs786204842) in the CAST gene, resulting in a lys142-to-ter (K142X) substitution.

In 2 brothers (individuals 3 and 4), OMIM:616295, Lin et al. (2015) identified homozygosity for a 1-bp deletion, c.1750delG (rs786205141) in the CAST gene, causing a frameshift and premature termination codon (Val584TrpfsTer37).

Created: 1 Dec 2016, 3:53 p.m.

Green List (high evidence)

phenotypes as described in submitted details

Created: 3 May 2016, 1:44 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 25683118