Familial disseminated superficial actinic porokeratosis

Gene: SSH1

Red List (low evidence)

This gene should stay in red as the data is based on very old linkage data.

Created: 20 Jun 2017, 12:47 p.m.

Comment when marking as ready: Marked SSH1 as ready: June 22nd 2017.

Created: 22 Jun 2017, 1:40 p.m.

Comment on list classification: Kept rating as Red to match External expert review: insufficient evidence to support role of SSH1 in DSAP.

Created: 22 Jun 2017, 1:40 p.m.

The evidence for a pathogenic role for SSH1 in DSAP isn't widely confirmed: Zhang et al., 2004 (PMID:15459975) identified a missense mutation, p.Ser63Asn in SSH1 in one family, a frameshift mutation, p.Ser19CysfsX24 in an alternative variant (isoform F) of SSH1 in another family, and a frameshift mutation, p.Pro27ProfsX54 in the same alternative variant in one non-familial case with DSAP. However Frank et al subsequently PMID:17621637 don't find SSH1 mutations in Dutch DSAP patients and question the SSH1 association.

Created: 8 Nov 2016, 4:25 p.m.