TITLE:
Complement Gene Mutation and Ehlers-Danlos Syndrome
AUTHORS:
Golder N. Wilson, Sahil S. Tonk, Vijay S. Tonk, Richard Lampe
KEYWORDS:
Ehlers-Danlos Syndrome, Periodontitis, Complement Component 1R Gene Mutations, Arthritis-Adrenaline Disorder, Whole Exome Sequencing
JOURNAL NAME:
Journal of Biosciences and Medicines,
Vol.8 No.6,
May
26,
2020
ABSTRACT: 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,
p.Asp518Val) 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 C1R gene mutation compared to those in the patients identified as
periodontal EDS. Conclusion: While
mutation of the C1R gene may
predict more frequent periodontal, skin, and vascular complications, focus on
an articulo-autonomic dysplasia process that includes mast-cell activation and
altered inflammatory response rather than extreme EDS types will help dentists
and other subspecialists identify all EDS patients and anticipate their
frequent oral manifestations.