Diagnostic challenges in a family with dominant dystrophic epidermolysis bullosa and isolated hereditary nail disorder: paternal gonosomal mosaicism for COL7A1 variant and maternal RSPO4 variant.

The article explores a family with a rare genetic condition involving variants in the COL7A1 gene causing dystrophic epidermolysis bullosa (DEB) and variants in the RSPO4 gene leading to isolated anonychia. The study reveals that the father exhibited gonosomal mosaicism for the COL7A1 variant, while the mother and siblings had the RSPO4 variant. The findings highlight the importance of analyzing different tissues for variant analysis and considering germline or gonosomal mosaicism in cases of recurrent clinical findings within a family. [Extracted from the article]