Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S , which Encode Subcomponents C1r and C1s of Complement
Open accessAbstract
Periodontal Ehlers-Danlos syndrome (pEDS) is an autosomal-dominant disorder characterized by early-onset periodontitis leading to premature loss of teeth, joint hypermobility, and mild skin findings. A locus was mapped to an approximately 5.8 Mb region at 12p13.1 but no candidate gene was identified. In an international consortium we recruited 19 independent families comprising 107 individuals with pEDS to identify the locus, characterize the clinical details in those with defined genetic causes, and try to understand the physiological basis of the condition. In 17 of these families, we identified heterozygous missense or in-frame insertion/deletion mutations in C1R (15 families) or C1S (2 families), contiguous genes in the mapped locus that encode subunits C1r and C1s of the first component of the classical complement pathway. These two proteins form a heterotetramer that then combines with six C1q subunits. Pathogenic variants involve the subunit interfaces or inter-domain hinges of C1r and C1s and are associated with intracellular retention and mild endoplasmic reticulum enlargement. Clinical features of affected individuals in these families include rapidly progressing periodontitis with onset in the teens or childhood, a previously unrecognized lack of attached gingiva, pretibial hyperpigmentation, skin and vascular fragility, easy bruising, and variable musculoskeletal symptoms. Our findings open a connection between the inflammatory classical complement pathway and connective tissue homeostasis.
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In 93 individuals with C1R or C1S mutations reported by Kapferer-Seebacher et al. [2016], joint hypermobility was reported in 56% of patients, mostly affecting the fingers (30%), the elbows (19%), knees (11%), hips, wrist, and ankle (3%).
“In 93 individuals with C1R or C1S mutations reported by Kapferer-Seebacher et al. [2016] joint hypermobility was reported in 56% of patients, mostly affecting the fingers (30%), the elbows (19%), knees (11%), hips, wrist, and ankle (3%).”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Kapferer-Seebacher et al., 2016
The Results section, “Clinical Characteristics of Periodontal EDS” (page not provided), reports joint hypermobility in 44% of affected individuals, not 56%. It says hypermobility was often limited to small joints but does not give the claimed percentages for specific joints. (LLM, conf=0.90)
Checked by a reasoning model — may be wrong.
Experimental — accuracy not yet measuredMarfanoid habitus, scoliosis, osteoarthritis, flat feet, and hernia were not consistent features in pEDS.
“Marfanoid habitus, scoliosis, osteoarthritis, flat feet, and hernia were not consistent features [Kapferer-Seebacher et al., 2016].”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Kapferer-Seebacher et al., 2016
The Results section (Clinical Characteristics of Periodontal EDS; page unavailable) says that scoliosis and pes planus (flat feet) were rare, supporting their description as inconsistent features. Our copy does not establish the same point for marfanoid habitus, osteoarthritis, or hernia. (LLM, conf=0.84)
Experimental — accuracy not yet measuredAtrophic scars were present in 50% of pEDS cases with C1R or C1S mutations.
“Atrophic scars were present in 50% of cases [Kapferer-Seebacher et al., 2016].”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Kapferer-Seebacher et al., 2016
The Results section (Clinical Characteristics of Periodontal EDS; page unavailable) reports that 50% of affected individuals had abnormal scars, defined as atrophic or wide. It does not report that 50% had atrophic scars specifically. (LLM, conf=0.90)
Experimental — accuracy not yet measuredKapferer-Seebacher et al. [2016] reported a prevalence of 16% for vascular complications (cerebral aneurisms or aortic dissection), and one individual with three events of organ rupture (once duodenum, twice lung).
“Kapferer-Seebacher et al. [2016] reported a prevalence of 16% for vascular complications (cerebral aneurisms or aortic dissection), and one individual with three events of organ rupture (once duodenum, twice lung).”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Kapferer-Seebacher et al., 2016
The Results (Clinical Characteristics of Periodontal EDS; page unavailable) report a history of aneurysms in 16% of affected individuals, four cerebral aneurysm cases, and two deaths after aortic dissection. The Introduction mentions arterial or gastrointestinal ruptures, but our copy does not substantiate the claim that one individual had three organ-rupture events involving the duodenum and lungs. (LLM, conf=0.86)
Experimental — accuracy not yet measuredHeterozygous missense or in-frame insertion/deletion variants in C1R were detected in 15 families (comprising 76 affected individuals), and heterozygous missense or in-frame insertion/deletion variants in C1S were detected in two families (comprising 16 affected individuals).
“Heterozygous missense or in-frame insertion/deletion variants in C1R were detected in 15 families (comprising 76 affected individuals), and heterozygous missense or in-frame insertion/ deletion variants in C1S were detected in two families (comprising 16 affected individuals).”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Kapferer-Seebacher et al., 2016
Split into 2 atoms — 0 confirmed, 2 partially supported, 0 disputed, 0 misattributed, 0 unverifiable. Expand the claim to see per-atom verdicts.
Experimental — accuracy not yet measured
Patients' fibroblasts showed an increased proportion of dilated rough ER (RER) cisternae.
“Additionally, patients' fibroblasts showed an increased proportion of dilated rough ER (RER) cisternae [Reinstein et al., 2012;Kapferer-Seebacher et al., 2016].”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Kapferer-Seebacher et al., 2016
The Results (Expression Studies; page unavailable) report increased dilated RER cisternae in HEK293 cells transfected with a patient-associated C1R mutation, compared with controls—not in patients’ fibroblasts. The Discussion says the finding was similar to that seen in skin in situ, but does not establish the claimed finding in patients’ fibroblasts. (LLM, conf=0.88)
Experimental — accuracy not yet measuredThere were single patients with autoimmunologic disorders like Sjögren syndrome, rosacea, and Crohn's disease.
“There were single patients with autoimmunologic disorders like Sj€ ogren syndrome, rosacea, and Crohn's disease [Kapferer-Seebacher et al., 2016].”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Kapferer-Seebacher et al., 2016
The Results section, “Clinical Characteristics of Periodontal EDS” (page unavailable), reports two instances of autoimmune disorders: Crohn disease and Sjögren syndrome in family 1. It does not report rosacea as an autoimmune disorder; it mentions facial flushing without identifying it as rosacea. (LLM, conf=0.88)
Experimental — accuracy not yet measuredIn 17 of these families, heterozygous missense or in-frame insertion/deletion mutations in C1R (15 families) or C1S (two families) were identified.
“In 17 of these families, heterozygous missense or in-frame insertion/deletion mutations in C1R (15 families) or C1S (two families) were identified.”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Kapferer-Seebacher et al., 2016
Variants never involved the catalytic domain of C1r or C1s.
“Variants never involved the catalytic domain of C1r or C1s [Kapferer-Seebacher et al., 2016].”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Kapferer-Seebacher et al., 2016
A characteristic recently described feature of pEDS is a striking lack of attached gingiva causing oral tissue fragility.
“A characteristic recently described feature is a striking lack of attached gingiva causing oral tissue fragility (Fig. 1) [Kapferer-Seebacher et al., 2016].”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Kapferer-Seebacher et al., 2016
In 2016, an international consortium published 19 independent families comprising 107 individuals with pEDS to identify the genetic locus.
“In 2016, an international consortium published 19 independent families comprising 107 individuals with pEDS to identify the genetic locus [Kapferer-Seebacher et al., 2016].”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Kapferer-Seebacher et al., 2016
Biochemical analysis of collagen in cultured skin fibroblasts did not show abnormalities in the production and secretion of type I, III, and V collagens in several case reports and also in eight individuals with confirmed mutations in C1S/C1R.
“Biochemical analysis of collagen in cultured skin fibroblasts did not show abnormalities in the production and secretion of type I, III, and V collagens in several case reports and also in eight individuals with confirmed mutations in C1S/C1R [Biesecker et al., 1991;Cunniff and Williamson-Kruse, 1995;Kapferer-Seebacher et al., 2016].”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Kapferer-Seebacher et al., 2016
In 93 individuals with C1R or C1S mutations reported by Kapferer-Seebacher et al. [2016], consistent cutaneous findings were pretibial discolorations (83%), easy bruising (96%), skin fragility (83%), and (mild) hyperelasticity of the skin (73%).
“In 93 individuals with C1R or C1S mutations reported by Kapferer-Seebacher et al. [2016], consistent cutaneous findings were pretibial discolorations (83%), easy bruising (96%), skin fragility (83%), and (mild) hyperelasticity of the skin (73%).”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Kapferer-Seebacher et al., 2016
Electron microscopy examination of skin reported in seven individuals with C1R/C1S mutations showed decreased collagen content, abnormal variation in collagen fibril diameter and some abnormally shaped fibrils.
“Electron microscopy examination of skin reported in seven individuals with C1R/C1S mutations showed decreased collagen content, abnormal variation in collagen fibril diameter and some abnormally shaped fibrils [Rahman et al., 2003;Reinstein et al., 2012Reinstein et al., , 2013;;Kapferer-Seebacher et al., 2016], which is in line with further reports [Kobayasi, 2004;Mataix et al., 2008].”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Kapferer-Seebacher et al., 2016
Kapferer-Seebacher et al. [2016] reported a prevalence of 40% for recurrent infections like otitis media, herpes zoster, bladder infections, empyema, kidney infections, or pneumonia.
“Kapferer-Seebacher et al. [2016] reported a prevalence of 40% for recurrent infections like otitis media, herpes zoster, bladder infections, empyema, kidney infections, or pneumonia.”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Kapferer-Seebacher et al., 2016
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Hyphae and HealthspanPreprint
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Self-citation
- Authors
- Kapferer-Seebacher, I., Pepin, M., Werner, R., Aitman, T. J., Nordgren, A., Stoiber, H., Thielens, N., Gaboriaud, C., Amberger, A., Schossig, A., Gruber, R., Giunta, C., Bamshad, M., Björck, E., Chen, C., Chitayat, D., Dorschner, M., Schmitt-Egenolf, M., Hale, C. J., Hanna, D., Hennies, H. C., Heiss-Kisielewsky, I., Lindstrand, A., Lundberg, P., Mitchell, A. L., Nickerson, D. A., Reinstein, E., Rohrbach, M., Romani, N., Schmuth, M., Silver, R., Taylan, F., Vandersteen, A., Vandrovcova, J., Weerakkody, R., Yang, M., Pope, F. M., Byers, P. H., Zschocke, J., Aleck, K., Banki, Z., Dudas, J., Dumfahrt, H., Haririan, H., Hartsfield, J. K., Kagen, C. N., Lindert, U., Meitinger, T., Posch, W., Pritz, C., Ross, D., Schroer, R. J., Wick, G., Wildin, R., & Wilflingseder, D.
- Affiliations
- University of Washington (US)
- Innsbruck Medical University (AT)
- Institute of Genetics and Cancer (GB)
- Karolinska University Hospital (SE)
- Centre National de la Recherche Scientifique (FR)
- University Children's Hospital Zurich (CH)
- Mount Sinai Hospital (CA)
- University of Huddersfield (GB)
- Umeå University (SE)
- Case Western Reserve University (US)
- Meir Medical Center (IL)
- Karolinska Institutet (SE)
- Izaak Walton Killam Health Centre (CA)
- Imperial College London (GB)
- West Middlesex University Hospital (GB)
- Corresponding author
- Byers, Peter H.
- Zschocke, Johannes
- ORCID
- Aitman, Timothy J.
- Nordgren, Ann
- Stoiber, Heribert
- Thielens, Nicole
- Gaboriaud, Christine
- Gruber, Robert
- Giunta, Cecilia
- Bamshad, Michael
- Björck, Erik
- Chitayat, David
- Hennies, Hans Christian
- Lindstrand, Anna
- Lundberg, Pernilla
- Mitchell, Anna L.
- Nickerson, Deborah A.
- Reinstein, Eyal
- Rohrbach, Marianne
- Romani, Nikolaus
- Schmuth, Matthias
- Taylan, Fulya
- Weerakkody, Ruwan
- Yang, Margaret
- Byers, Peter H.
- Zschocke, Johannes
- Haririan, Hady
- Hartsfield, James K.
- Lindert, Uschi
- Meitinger, Thomas
- Posch, Wilfried
- Pritz, Christian
- Ross, David
- Wildin, Robert
- Wilflingseder, Doris
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2016-11
- Volume
- 99
- Issue
- 5
- Pages
- 1005-1014
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC5097948
- OpenAlex
- W2531200591
- Cited by
- 123
- References
- 40
- Citations by year
- 2026: 8 · 2025: 4 · 2024: 10 · 2023: 11 · 2022: 20 · 2021: 14 · 2020: 18 · 2019: 15 · 2018: 13 · 2017: 10
- FWCI
- 7.68
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Locations
- The American Journal of Human Genetics (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- UWA Profiles and Research Repository (UWA) (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Kölner Universitäts PublikationsServer (Universität zu Köln) (publishedVersion)
- Zurich Open Repository and Archive (University of Zurich) (acceptedVersion, cc-by)
- HAL (submittedVersion, other-oa)
- University of Huddersfield Repository (University of Huddersfield) (submittedVersion)
- DiVA at Umeå University (Umeå University) (submittedVersion, other-oa)
- UCL Discovery (University College London) (submittedVersion)
- Institutional Research Information System University of Turin (University of Turin) (submittedVersion)
- Huddersfield Research Portal (University of Huddersfield) (submittedVersion, cc-by)
- Edinburgh Research Explorer (University of Edinburgh) (submittedVersion, other-oa)
- Zurich Open Repository and Archive (University of Zurich) (submittedVersion, cc-by)
- Zurich Open Repository and Archive (University of Zurich)
- Funders
- Oesterreichische Nationalbank (15408)
- Propter Homines Foundation
- FWF (W1253-B24)
- SNF (310030_138288)
- UK MRC Clinical Sciences Centre
- Wellcome Clinical Training Fellowship (100565/Z/12/Z)
- Freudmann Fund for Translational Research in Ehlers Danlos syndrome, the Ehlers Danlos Research Fund, and the Center for Precision Diagnostics at the University of Washington
- National Heart, Lung, and Blood Institute (U54HG006493)
- Topics
- Life Sciences › Immunology and Microbiology › Immunology › Complement system in diseases
- Health Sciences › Dentistry › Periodontics › Oral microbiology and periodontitis research
- Health Sciences › Health Professions › Pharmacy › Oral and gingival health research
- Keywords
- C1r, C1s, classical complement pathway, C1q, missense mutations, insertion-deletion mutations, periodontitis, endoplasmic reticulum retention, autosomal dominant disorder, gene mapping, joint hypermobility, skin fragility
- MeSH terms
- Adolescent, Adult, Child, Child, Preschool, Chromosome Mapping, Chromosomes, Human, Pair 12, Complement C1s, Ehlers-Danlos Syndrome, Endoplasmic Reticulum, Female, Humans, Male, Pedigree, Periodontitis, Protein Conformation, Complement C1r, Gene Deletion, Mutation, Missense, Young Adult, Genetic Loci, Exome
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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