A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers‐Danlos syndrome that proved to be a COL1‐related overlap disorder

COL1‐related overlap disorder is a condition, which is not yet considered as part of the 2017 EDS classification. However, it should be investigated as an alternative diagnosis for any patient with hypermobile EDS. This could allow providing appropriate genetic counseling.

[1]  W. Reardon,et al.  COL1‐related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap , 2019, Clinical genetics.

[2]  X. Jeunemaître,et al.  Classical Ehlers‐Danlos syndrome with a propensity to arterial events: A new report on a French family with a COL1A1 p.(Arg312Cys) variant , 2019, Clinical genetics.

[3]  J. Parisi,et al.  Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome. , 2018, American journal of human genetics.

[4]  F. Malfait,et al.  Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review , 2017, Genetics in Medicine.

[5]  R. Grahame,et al.  Hypermobile Ehlers–Danlos syndrome (a.k.a. Ehlers–Danlos syndrome Type III and Ehlers–Danlos syndrome hypermobility type): Clinical description and natural history , 2017, American journal of medical genetics. Part C, Seminars in medical genetics.

[6]  J. Belmont,et al.  The 2017 international classification of the Ehlers–Danlos syndromes , 2017, American journal of medical genetics. Part C, Seminars in medical genetics.

[7]  M. Venturini,et al.  Delineation of Ehlers–Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three‐generation family without cardiovascular events, and literature review , 2017, American journal of medical genetics. Part A.

[8]  J. Morton,et al.  Genetic Heterogeneity and Clinical Variability in Musculocontractural Ehlers–Danlos Syndrome Caused by Impaired Dermatan Sulfate Biosynthesis , 2015, Human mutation.

[9]  B. Tinkle,et al.  Spontaneous ruptured dissection of the right common iliac artery in a patient with classic Ehlers-Danlos syndrome phenotype. , 2015, Annals of vascular surgery.

[10]  Bale,et al.  Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.

[11]  G. Mortier,et al.  Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome , 2013, Orphanet Journal of Rare Diseases.

[12]  J. Fallas,et al.  Structural Insights into Charge Pair Interactions in Triple Helical Collagen-like Proteins* , 2011, The Journal of Biological Chemistry.

[13]  J. Fallas,et al.  Solution Structure of an ABC Collagen Heterotrimer Reveals a Single-register Helix Stabilized by Electrostatic Interactions* , 2009, The Journal of Biological Chemistry.

[14]  A. De Paepe,et al.  Three arginine to cysteine substitutions in the pro‐alpha (I)‐collagen chain cause Ehlers‐Danlos syndrome with a propensity to arterial rupture in early adulthood , 2007, Human mutation.

[15]  F. Glorieux,et al.  Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans , 2007, Human mutation.

[16]  J. Ramshaw,et al.  Prediction of Collagen Stability from Amino Acid Sequence* , 2005, Journal of Biological Chemistry.

[17]  G. Pals,et al.  Mutations Near Amino End of α1(I) Collagen Cause Combined Osteogenesis Imperfecta/Ehlers-Danlos Syndrome by Interference with N-propeptide Processing* , 2005, Journal of Biological Chemistry.

[18]  B. Hamel,et al.  Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome. , 2003, American journal of human genetics.

[19]  Luigi Vitagliano,et al.  Recent progress on collagen triple helix structure, stability and assembly. , 2002, Protein and peptide letters.

[20]  Shawn M. Sweeney,et al.  Mapping the Ligand-binding Sites and Disease-associated Mutations on the Most Abundant Protein in the Human, Type I Collagen* , 2002, The Journal of Biological Chemistry.

[21]  E. Leikina,et al.  Type I collagen is thermally unstable at body temperature , 2002, Proceedings of the National Academy of Sciences of the United States of America.

[22]  M. Wright,et al.  Clinical phenotypes and molecular characterisation of three patients with Ehlers-Danlos syndrome type VII , 2000, Journal of medical genetics.

[23]  L. Lagae,et al.  Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen. , 2000, American journal of human genetics.

[24]  Helen M. Berman,et al.  Sequence dependent conformational variations of collagen triple-helical structure , 1999, Nature Structural Biology.

[25]  S. Krane,et al.  Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen. , 1997, American journal of medical genetics.

[26]  K. Kadler,et al.  Assembly of type I collagen fibrils de novo. Between 37 and 41 degrees C the process is limited by micro-unfolding of monomers. , 1988, The Journal of biological chemistry.