CDSN Gene

The CDSN gene (CDSN is the acronym for corneodesmosin) is a protein coding gene located on chromosome 6p21.33.

Diseases associated with CDSN include:

• Peeling Skin Syn drome 1 (OMIM:270300).
• Hypotrichosis 2nd (Hypotrichosis simplex).

Peeling skin disease is caused by biallelic mutations in CDSN as an autosomal recessive inheritance. Monoallelic mutations in CDSN have also been described in an autosomal dominant inherited genodermatosis, hypotrichosis simplex of the scalp. This disease is characterized by progressive hair loss on the scalp starting after early childhood.

This gene encodes a protein found in corneodesmosomes localized in human epidermis and other keratinized squamous epithelia. The encoded protein undergoes a series of cleavages during corneocyte maturation. This gene is highly polymorphic in human populations, and variation has been associated with skin diseases such as psoriasis, hypotrichosis, and peeling syndrome. The gene is located in the major histocompatibility complex (MHC) class I region on chromosome 6.

1. Orrù S et al (2002) Psoriasis is associated with a SNP haplotype of the corneodesmosin gene (CDSN). Tissue Antigens 60:292-298.
2. van der Velden JJAJ et al. (2020) Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp. J Dermatol 47:3-7.
3. Valentin Fet al. (2021) Development of a pathogenesis-based therapy for peeling skin syndrome type 1. Br J Dermatol 84: 1123-1131.