A Gene for Pachyonychia Congenita Is Closely Linked to the Keratin Gene Cluster on 17q12-q21

The study investigated pachyonychia congenita (PC), a hereditary syndrome characterized by nail dystrophy and other features, in a large Jackson-Lawler type PC family. The research found a strong genetic linkage between the disease and the keratin gene cluster on chromosome 17q12-q21, with significant lod scores of +4.51 and +7.73 for markers near the KRT10 gene. This provided strong evidence of a keratin gene anomaly as the underlying cause of PC, affecting the epidermis, nails, hair, and mucosa. The findings suggested potential keratin genes for mutation studies and indicated a possible role of keratins in natal dentition.