Proposing <i>GLMN</i>, encoding glomulin, as a novel gene for Dowling–Degos disease
Dowling–Degos disease (DDD) is a rare hyperpigmentation disorder with autosomal-dominant inheritance. To date, work by our group and others has identified a total of four DDD sub-phenotypes, which arise secondary to variants in KRT5, POFUT1, POGLUT1 and PSENEN. We postulate that GLMN is a novel fifth gene for DDD that contributes to a hitherto unrecognized DDD sub-phenotype.
Authors
- Regina C. Betz (ORCID: https://orcid.org/0000-0001-5024-3623)
- Sheetal Kumar (ORCID: https://orcid.org/0000-0002-5240-079X)
- Jorge Frank
Institutions
- University of Bonn (DE)
- University Hospital Bonn (DE)
- Universitätsmedizin Göttingen (DE)
Publication Details
- Journal
- British Journal of Dermatology
- Published
- 2024-10-25
- DOI
- https://doi.org/10.1093/bjd/ljae418
- Citations
- 3
- Primary Topic
- RNA regulation and disease
- Type
- article
- Field-Weighted Citation Impact
- 0.70