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A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1.
Eur J Med Genet 2019; :103730EJ

Abstract

The Ehlers-Danlos syndromes (EDS) are heritable disorders of connective tissue (HDCT) with joint hypermobility, skin hyperextensibility and tissue fragility, which were recently re-classified (2017 International Classification). Most patients (>90%) with Classical Ehlers-Danlos syndrome (cEDS) have a mutation in the COL5A1 or COL5A2 genes encoding type V procollagen. A small number of patients with the p.Arg312Cys mutation in COL1A1 have been reported with overlapping features of both cEDS and vascular EDS (vEDS). In this report, we describe two patients from a large family with this mutation and clinical features consistent with cEDS without vascular complications. The proband presented with congenital hip dislocation (previously reported in one patient), the mother of the proband with multiple fractures in childhood, and dental defects (novel findings). The small number of patients reported with this mutation and proportion with vascular complications suggests that vascular surveillance should still be recommended.

Authors+Show Affiliations

Queens University Medical School, Kingston, ON, Canada.IWK Health Centre, Halifax, NS, Dalhousie University Medicine, Canada.IWK Health Centre, Halifax, NS, Dalhousie University Medicine, Canada.IWK Health Centre, Halifax, NS, Dalhousie University Medicine, Canada.IWK Health Centre, Halifax, NS, Dalhousie University Medicine, Canada.University of Washington, Seattle, WA, United States.QEII Health Sciences Centre, Division Cardiology, Dalhousie University Medicine, Canada.IWK Health Centre, Halifax, NS, Dalhousie University Medicine, Canada. Electronic address: Anthony.Vandersteen@iwk.nshealth.ca.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

31323331

Citation

Duong, June, et al. "A Family With Classical Ehlers-Danlos Syndrome (cEDS), Mild Bone Fragility and Without Vascular Complications, Caused By the p.Arg312Cys Mutation in COL1A1." European Journal of Medical Genetics, 2019, p. 103730.
Duong J, Rideout A, MacKay S, et al. A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1. Eur J Med Genet. 2019.
Duong, J., Rideout, A., MacKay, S., Beis, J., Parkash, S., Schwarze, U., ... Vandersteen, A. (2019). A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1. European Journal of Medical Genetics, p. 103730. doi:10.1016/j.ejmg.2019.103730.
Duong J, et al. A Family With Classical Ehlers-Danlos Syndrome (cEDS), Mild Bone Fragility and Without Vascular Complications, Caused By the p.Arg312Cys Mutation in COL1A1. Eur J Med Genet. 2019 Jul 16;103730. PubMed PMID: 31323331.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1. AU - Duong,June, AU - Rideout,Andrea, AU - MacKay,Sara, AU - Beis,Jill, AU - Parkash,Sandhya, AU - Schwarze,Ulrike, AU - Horne,S Gabrielle, AU - Vandersteen,Anthony, Y1 - 2019/07/16/ PY - 2018/09/11/received PY - 2019/05/31/revised PY - 2019/07/13/accepted PY - 2019/7/20/pubmed PY - 2019/7/20/medline PY - 2019/7/20/entrez KW - Classical Ehlers-Danlos syndrome KW - Congenital hip dysplasia KW - Heritable disorders of connective tissue KW - p.(Arg312Cys) COL1A1 SP - 103730 EP - 103730 JF - European journal of medical genetics JO - Eur J Med Genet N2 - The Ehlers-Danlos syndromes (EDS) are heritable disorders of connective tissue (HDCT) with joint hypermobility, skin hyperextensibility and tissue fragility, which were recently re-classified (2017 International Classification). Most patients (>90%) with Classical Ehlers-Danlos syndrome (cEDS) have a mutation in the COL5A1 or COL5A2 genes encoding type V procollagen. A small number of patients with the p.Arg312Cys mutation in COL1A1 have been reported with overlapping features of both cEDS and vascular EDS (vEDS). In this report, we describe two patients from a large family with this mutation and clinical features consistent with cEDS without vascular complications. The proband presented with congenital hip dislocation (previously reported in one patient), the mother of the proband with multiple fractures in childhood, and dental defects (novel findings). The small number of patients reported with this mutation and proportion with vascular complications suggests that vascular surveillance should still be recommended. SN - 1878-0849 UR - https://www.unboundmedicine.com/medline/citation/31323331/A_family_with_Classical_Ehlers-Danlos_Syndrome_(cEDS),_mild_bone_fragility_and_without_vascular_complications,_caused_by_the_p.Arg312Cys_mutation_in_COL1A1 L2 - https://linkinghub.elsevier.com/retrieve/pii/S1769-7212(18)30703-1 DB - PRIME DP - Unbound Medicine ER -