Complement Gene Mutation and Ehlers-Danlos Syndrome
Complement Gene Mutation and Ehlers-Danlos Syndrome作者机构：Department of Pediatrics Lubbock USA Departments of Pediatrics and Internal Medicine Lubbock USA Departments of Pediatrics Obstetrics & Gynecology and Pathology Lubbock USA Deparment of Pediatrics Infectious Disease Division Texas Tech University Health Science Center Lubbock USA
出 版 物：《Journal of Biosciences and Medicines》 (生物科学与医学（英文）)
年 卷 期：2020年第8卷第6期
页 面：28-36页
主 题：Ehlers-Danlos Syndrome Periodontitis Complement Component 1R Gene Mutations Arthritis-Adrenaline Disorder Whole Exome Sequencing
摘 要：Background: Dental complications of Ehlers-Danlos syndrome (EDS) include periodontitis with gum fragility and inflammation, enamel hypoplasia with frequent caries, high palate with dental crowding, TMJ instability, sutural dehiscence or scarring, and insensitivity to anesthetics. Objective: Determine if EDS dental complications always define a specific type and genetic cause or if they can arise as a general consequence of altered inflammatory response in EDS. Method: We compared findings of a 58-year-old female with complement component 1R (C1R) gene mutation (c.1553A T, ***518Val) found by whole exome sequencing to 43 patients with C1R gene mutations ascertained because of periodontal disease and to 710 EDS patients conventially ascertained because of joint and skin laxity. Result: Female patients ascertained as periodontal EDS showed the expected higher frequency of periodontitis (96% versus 14%) but had similar frequencies of hypermobility (81% versus 90%) and some skin findings (84% versus 92% with skin fragility) as the general group and our female patient who shared their C1R gene change. Her oromandibular bone loss rather than gum disease may reflect the more carboxy-terminal position of her C
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