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A Chinese family with periodontal Ehlers–Danlos syndrome associated with missense mutation in the C1R gene
Author(s) -
Wu Juan,
Yang Jie,
Zhao Jie,
Wu Jingrong,
Zhang Xuan,
Leung Wai Keung,
Sun Weibin
Publication year - 2018
Publication title -
journal of clinical periodontology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.456
H-Index - 151
eISSN - 1600-051X
pISSN - 0303-6979
DOI - 10.1111/jcpe.12988
Subject(s) - proband , missense mutation , medicine , frameshift mutation , periodontitis , exome sequencing , aggressive periodontitis , genetics , dermatology , mutation , dentistry , gene , biology
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 COL 3A1 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 COL 3A1 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.