A Chinese family with periodontal Ehlers-Danlos syndrome associated with missense mutation in the <i>C1R</i> gene

Abstract

Aim: We report a rare case of the periodontal Ehlers–Danlos syndrome (pEDS) associated with severe periodontitis and tooth loss in a Chinese family. Material and Methods: The proband complained of gingival bleeding and mobility, which were also reported in his mother, and maternal uncle and his maternal grandmother and great‐grandfather in the past. All family members underwent oral, physical, dermatological, and genetic examinations. Results: Oral manifestation of family members affected with pEDS presented severe periodontitis with multiple or total tooth loss. The proband displayed unique clinical manifestations including a characteristic facial appearance and thin, translucent skin with easily visible venous patterns on feet. Whole‐exome sequencing identified missense mutation c.265T>C in C1R in all affected family members tested and frameshift mutation c.1322delG in COL3A1 in the proband alone. None of the unaffected members showed any marked oral, physical, dermatological, or genetic findings. Conclusion: We reported an extremely rare case of pEDS with a missense mutation in C1R in a Chinese family, with coexistence C1R and COL3A1 mutations in the proband who was suspected to suffer from vascular EDS as well. To our knowledge, this is the first case of coexistence of two forms of EDS in a single individual.