illandchill

illandchill https://illandchill.dreamwidth.org/ illandchill - Dreamwidth Studios Sat, 28 Mar 2026 17:45:04 GMT LiveJournal / Dreamwidth Studios illandchill personal https://v2.dreamwidth.org/18391676/4325610 illandchill https://illandchill.dreamwidth.org/ 100 100 https://illandchill.dreamwidth.org/341.html Sat, 28 Mar 2026 17:45:04 GMT Myopathic Ehlers-Danlos Syndrome (COL12A1) https://illandchill.dreamwidth.org/341.html NOTE: I am <u>not</u> a medical professional, nor am I providing medical advice. This is purely educational and is intended to help patients or caregivers find information on rare types of Ehlers-Danlos syndrome and rare gene variants that can then, for example, be given to medical professionals to aid in their care.<br /><br />In literature, this type of EDS is often used interchangeably with the terms "Bethlem Myopathy 2," especially in the ClinVar database. <a href="https://www.ncbi.nlm.nih.gov/clinvar/?term=COL12A1%5Bgene%5D" target="_blank">ClinVar</a> currently lists only 149 <em>known</em> pathogenic/likely pathogenic variants in the COL12A1 gene. On the other hand, there are 1,991 variants in the COL12A1 gene that are variants of uncertain significance.<br /><br />Synonyms listed on the <a href="https://rarediseases.org/mondo-disease/bethlem-myopathy-2/" target="_blank">NORD</a> website include: Bethlem myopathy 2, Bethlem myopathy caused by mutation in COL12A1, and myopathic Ehlers-Danlos Syndrome. I have also found that mEDS is often described as "Bethlem myopathy/Ehlers-Danlos overlap syndrome." Another condition that is typically grouped with mEDS (especially regarding COL12A1 variants) is Ullrich congenital muscular dystrophy type 2 (UCMD2); however, from what I can tell UCMD2 is a bit clinically different from mEDS (though it still has many similarities).<br /><br /><b>Bethlem Myopathy 2</b> is characterized by hypotonia (low muscle tone) and myopathy (disease of the muscle) at birth. Joint contractures, or when your joints and muscles tighten causing a deformity, can also occur alongside joint hypermobility. (<a href="https://www.omim.org/entry/616471" target="_blank">OMIM</a>)<br /><br /><b>Ullrich congenital muscle dystrophy-2</b> is characterized by joint hypermobility, joint contractures, and muscle weakness prior to walking. (<a href="https://www.omim.org/entry/616470?search=Ullrich%20congenital%20muscular%20dystrophy%20type%202&highlight=2%2Ccongenital%2Cdystrophy%2Cmuscular%2Ctype%2Cullrich" target="_blank">OMIM</a>)<br /><br /><b>Myopathic Ehlers-Danlos Syndrome</b> is characterized by hypotonia and/or muscle weakness at birth, joint contractures, and joint hypermobility. It may also cause soft/doughy skin and atrophic scarring. (<a href="https://www.orpha.net/en/disease/detail/536516" target="_blank">Orphanet</a>)<br /><br />Below is a list of papers published that relate to or directly mention COL12A1 variants, myopathic EDS, Bethlem Myopathy 2, and UCMD2. Articles that I <i>know</i> without a doubt are peer reviewed are marked with asterisks (*). Only five of these papers are not open-access and will require you to access them through <a href="https://drive.proton.me/urls/EAGNMW8C8R#m1RyqsBzPblT" target="_blank">this</a> link. The papers are password protected, so please message me on here, on <a href="https://www.reddit.com/user/PickleNarrow5109/" target="_blank">reddit</a>, or email me at: illandchill@mailbox.org to gain access. Also, <strong>please</strong> message me on any of those places if you have found any papers not listed here. Please also let me know if any of these links break.<br /><br />Lots of love, V.<br /><br /><b>Papers</b><br /><br /><a href="https://univ-angers.hal.science/hal-03978287/file/COL12A1_AJMGA_2022%20hal-03978287.pdf" target="_blank">Ehlers-Danlos/myopathy overlap syndrome caused by a large de novo deletion in COL12A1</a> *<br /><br /><a href="https://pubmed.ncbi.nlm.nih.gov/24334769/" target="_blank">Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy</a> * - not open access<br /><br /><a href="https://pmc.ncbi.nlm.nih.gov/articles/PMC5236000/" target="_blank">A novel COL12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects</a> *<br /><br /><a href="https://pmc.ncbi.nlm.nih.gov/articles/PMC3976332/" target="_blank">Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice</a> *<br /><br /><a href="https://www.gimjournal.org/article/S1098-3600(21)01096-0/fulltext" target="_blank">Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome and lead to variant-specific alterations in the extracellular matrix</a> *<br /><br /><a href="https://pubmed.ncbi.nlm.nih.gov/29342313/" target="_blank">Collagen XII myopathy with rectus femoris atrophy and collagen XII retention in fibroblasts</a> * - not open access<br /><br /><a href="https://www.ncbi.nlm.nih.gov/pubmed/31509352" target="_blank">Dominant collagen XII mutations cause a distal myopathy</a> *<br /><br /><a href="https://www.ncbi.nlm.nih.gov/pubmed/39129837" target="_blank">COL12A1 Gene Variant and a Review of the Literature: A Case Report of Ullrich Congenital Muscular Dystrophy</a> *<br /><br /><a href="https://www.ncbi.nlm.nih.gov/pubmed/37353357" target="_blank">Homozygous splice site variant affecting the first von Willebrand factor A domain of COL12A1 in a patient with myopathic Ehlers-Danlos syndrome</a> *<br /><br /><a href="https://onlinelibrary.wiley.com/doi/10.1111/nan.13004" target="_blank">A novel homozygous nonsense variant in COL12A1 causes myopathic Ehlers-Danlos syndrome: A case report and literature review</a> * - not open access<br /><br /><a href="https://link.springer.com/article/10.1007/s11033-023-08644-6" target="_blank">Whole exome sequencing identifies a novel variant in the COL12A1 gene in a family with Ullrich congenital muscular dystrophy 2</a> * - not open access<br /><br /><a href="https://pmc.ncbi.nlm.nih.gov/articles/PMC9689997/" target="_blank">Ehlers-Danlos: A Literature Review and Case Report in a Colombian Woman with Multiple Comorbidities</a> *<br /><br /><a href="https://pmc.ncbi.nlm.nih.gov/articles/PMC11920742/" target="_blank">Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variants</a> *<br /><br /><a href="https://www.sciencedirect.com/science/article/pii/S1769721225000643" target="_blank">COL12A1-related myopathic Ehlers-Danlos syndrome with Chiari I malformation: A clinical report</a> *<br /><br /><a href="https://www.sciencedirect.com/science/article/pii/S1769721225000643" target="_blank">Ullrich congenital muscular dystrophy: Connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes</a> *<br /><br /><a href="https://www.mdpi.com/2073-4425/13/2/265" target="_blank">The Ehlers-Danlos Syndromes against the Backdrop of Inborn Errors of Metabolism</a> *<br /><br /><a href="https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.c.31550" target="_blank">The Ehlers-Danlos syndromes, rare types</a><br /><br /><a href="https://www.mdpi.com/1422-0067/26/11/5387" target="_blank">Myopathic Ehlers-Danlos Syndrome (mEDS) Related to COL12A1: Two Novel Families and Literature Review</a> *<br /><br /><a href="https://www.nmd-journal.com/article/S0960-8966(19)30932-0/abstract" target="_blank">Recessive COL12A1 loss of function EDS/myopathy overlap syndrome: confirmation and expansion of a consistently severe phenotype</a> *<br /><br /><a href="https://www.nmd-journal.com/article/S0960-8966(13)00554-3/abstract" target="_blank">Collagen type XII: A new congenital matrix and muscle disease</a> * - not open access<br /><br /><a href="https://onlinelibrary.wiley.com/doi/full/10.1111/odi.70000" target="_blank">A Novel COL12A1 Mutation Causes Oral Tissue Abnormalities by Regulating Gingival Fibroblast Function</a> *<br /><br /><a href="https://www.nmd-journal.com/article/S0960-8966(13)00553-1/abstract" target="_blank">Collagen XII as a new disease gene for Bethlem-like myopathy</a> *<br /><br /><a href="https://journals.lww.com/neur/fulltext/2023/71060/collagen_xii_related_myopathy__an_emerging.28.aspx" target="_blank">Collagen XII-Related Myopathy: An Emerging Spectrum of Extracellular Matrix-Related Myopathy</a> *<br /><br /><img src="https://www.dreamwidth.org/tools/commentcount?user=illandchill&ditemid=341" width="30" height="12" alt="comment count unavailable" style="vertical-align: middle;"/> comments https://illandchill.dreamwidth.org/341.html col12a1 myopathy myopathic eds public

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