{"id":29907,"date":"2025-04-18T09:53:09","date_gmt":"2025-04-18T09:53:09","guid":{"rendered":"https:\/\/www.europesays.com\/uk\/29907\/"},"modified":"2025-04-18T09:53:09","modified_gmt":"2025-04-18T09:53:09","slug":"vascular-ehlers-danlos-syndrome-and-chromosome-2q32-microdeletion-syndrome","status":"publish","type":"post","link":"https:\/\/www.europesays.com\/uk\/29907\/","title":{"rendered":"Vascular Ehlers Danlos Syndrome and Chromosome 2q32 Microdeletion Syndrome"},"content":{"rendered":"
  • \n

    Glass I, Swindlehurst C, Aitken D, McCrea W, Boyd E. Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase. J Med Genet. 1989;26:127\u201330.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n     PubMed Central<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Balasubramanian M, Smith K, Basel-Vanagaite L, Feingold M, Brock P, Gowans G, et al. Case series: 2q33. 1 microdeletion syndrome\u2014further delineation of the phenotype. J Med Genet. 2011;48:290\u20138.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Zarate YA, Fish JL. SATB2\u2010associated syndrome: Mechanisms, phenotype, and practical recommendations. Am J Med Genet Part A. 2017;173:327\u201337.<\/p>\n

    Article<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, et al. The 2017 international classification of the Ehlers\u2013Danlos syndromes. Am J Med Genet Part C: Semin Med Genet. 2017;175:8\u201326.<\/p>\n

    Article<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Sobey G. Ehlers\u2013Danlos syndrome: how to diagnose and when to perform genetic tests. Arch Dis Child. 2015;100:57\u201361.<\/p>\n

    Article<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Leistritz D, Pepin M, Schwarze U, Byers PH. COL3A1haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy. Genet Med. 2011;13:717\u201322.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Pepin MG, Schwarze U, Rice KM, Liu M, Leistritz D, Byers PH. Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV). Genet Med. 2014;16:881\u20138.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Ritelli M, Dordoni C, Venturini M, Chiarelli N, Quinzani S, Traversa M, et al. Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. Orphanet J Rare Dis. 2013;12:1\u201319.<\/p>\n


    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Ritelli M, Venturini M, Cinquina V, Chiarelli N, Colombi M. Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives. Orphanet J Rare Dis. 2020;15:1\u201318.<\/p>\n

    Article<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Martin AR, Williams E, Foulger RE, Leigh S, Daugherty LC, Niblock O, et al. PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels. Nat Genet. 2019;51:1560\u20131565. https:\/\/nhsgms-panelapp.genomicsengland.co.uk\/panels\/53\/v3.0<\/a><\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Angwin C, Ghali N, Baker D, Brady A, Pope F, Vandersteen A, et al. Electron microscopy in the diagnosis of Ehlers\u2013Danlos syndromes: correlation with clinical and genetic investigations. Br J Dermatol. 2020;182:698\u2013707.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Crowther MA, Lach B, Dunmore PJ, Roach MR. Vascular collagen fibril morphology in type IV Ehlers-Danlos syndrome. Connect Tissue Res. 1991;25:209\u201317.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Bowen JM, Sobey GJ, Burrows NP, Colombi M, Lavallee ME, Malfait F, et al. Ehlers-Danlos syndrome, classical type. Am J Med Genet. 2017;175:27\u201339.<\/p>\n

    Article<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Van Buggenhout G, Van Ravenswaaij-Arts C, Mc Maas N, Thoelen R, Vogels A, Smeets D, et al. The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients. Eur J Med Genet. 2005;48:276\u201389.<\/p>\n

    Article<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Mencarelli MA, Caselli R, Pescucci C, Hayek G, Zappella M, Renieri A, et al. Clinical and molecular characterization of a patient with a 2q31.2-32.3 deletion identified by array-CGH. Am J Med Genet Part A. 2007;143A:858\u201365.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Prontera P, Bernardini L, Stangoni G, Capalbo A, Rogaia D, Ardisia, et al. 2q31.2q32.3 deletion syndrome: report of an adult patient. Am J Med Genet Part A. 2009;149A:706\u201312.<\/p>\n

    Article<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Rifai L, Port\u2010Lis M, Tabet A, Bailleul\u2010Forestier I, Benzacken B, Drunat, et al. Ectodermal dysplasia-like syndrome with mental retardation due to contiguous gene deletion: further clinical and molecular delineation of del(2q32) syndrome. Am J Med Genet Part A. 2010;152A:111\u20137.<\/p>\n

    Article<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Meienberg J, Rohrbach M, Neuenschwander S, Spanaus K, Giunta C, Alonso S, et al. Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency. Eur J Hum Genet. 2010;18:1315\u201321.<\/p>\n

    Article<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n     PubMed Central<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Ferreira SI, Matoso E, Ven\u00e2ncio M, Saraiva J, Melo JB, et al. Critical region in 2q31.2q32.3 deletion syndrome: report of two phenotypically distinct patients, one with an additional deletion in alagille syndrome region. Mol Cytogenet. 2012;5:25\u201325.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n     PubMed Central<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Mc Cormack A, Taylor J, Gregersen N, George AM, & Love DR. Delineation of 2q32q35 deletion phenotypes: two apparent \u201cProximal\u201d and \u201cDistal\u201d syndromes. Case Rep Genet 2013;823451.<\/p>\n<\/li>\n

  • \n

    Kempers MJ, Wessels M, Van Berendoncks A, van de Laar IM, de Leeuw N, Loeys B. Phenotype of COL3A1\/COL5A2 deletion patients. Eur J Med Genet. 2022;65:104593.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Shalhub S, Black JH, Cecchi AC, Xu Z, Griswold BF, Safi HJ, et al. Molecular diagnosis in Vascular Ehlers-Danlos Syndrome predicts pattern of arterial involvement and outcomes. J Vasc Surg. 2014;60:160\u20139. (2014)<\/p>\n

    Article<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Frank M, Albuisson J, Ranque B, Golmard L, Mazzella J-M, Bal-Theoleyre L, et al. The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers\u2013Danlos syndrome. Eur J Hum Genet. 2015;23:1657\u201364.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n     PubMed Central<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Demirdas S, van den Bersselaar LM, Lechner R, Bos J, Alsters SIM, Baars MJH, et al. Vascular Ehlers-Danlos Syndrome: a comprehensive natural history study in a Dutch national cohort of 142 patients. Circulation: Genom Precis Med. 2024, https:\/\/doi.org\/10.1161\/CIRCGEN.122.003978<\/a>.<\/p>\n<\/li>\n

  • \n

    Adham S M, Zinzindohou\u00e9 F, Jeunemaitre X, Frank M. Natural history and surgical management of colonic perforations in Vascular Ehlers-Danlos Syndrome: a retrospective review. Dis Colon Rectum. 2019;62:859\u201366. 859-866<\/p>\n

    Article<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Bowen JM, Hernandez M, Johnson DS, Green C, Kammin T, Baker D, et al. Diagnosis and management of vascular Ehlers-Danlos syndrome: experience of the UK National Diagnostic Service, Sheffield. Eur J Hum Genet. 2023;31:749\u201360. https:\/\/doi.org\/10.1038\/s41431-023-01343-7<\/a><\/p>\n

    Article<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n     PubMed Central<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Byers PH, Belmont J, Black J, De Backer J, Frank M, Jeunemaitre X, et al. J Med Genet Part C: Semin Med Genet, 2017;175:40\u201347.<\/p>\n<\/li>\n

  • \n

    Drera B, Zoppi N, Ritelli M, Barlati S, Colombi M, Tadini G, et al. Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations. J Dermatol Sci. 2011;64:237\u201340.<\/p>\n

    Article<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Shimaoka Y, Kosho T, Wataya\u2010Kaneda M, Funakoshi M, Suzuki T, Hayashi S, et al. Clinical and genetic features of 20 Japanese patients with vascular-type Ehlers\u2013Danlos syndrome. Br J Dermatol. 2010;163:704\u201310.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Oderich GS, Panneton JM, Bower TC, Lindor NM, Cherry KJ, Noel AA, et al. The spectrum, management and clinical outcome of Ehlers-Danlos syndrome type IV: a 30-year experience. J Vasc Surg. 2005;42:98\u2013106.<\/p>\n

    Article<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Kuming B, Joffe L. Ehlers-Danlos syndrome associated with keratoconus-a case report. South Afr Med J. 1977;52:403\u20135.<\/p>\n

    CAS<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Henneton P, Albuisson J, Denari\u00e9 N, Mazzella J-M, Mousseaux E. Vascular Ehlers-Danlos syndrome: long-term observational study. J Am Coll Cardiol. 2019;73:1948\u201357.<\/p>\n

    Article<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Zarate YA, Bosanko KA, Thomas MA, Miller DT, Cusmano\u2010Ozog K, Martinez\u2010Monseny A, et al. Growth, development, and phenotypic spectrum of individuals with deletions of 2q33. 1 involving SATB2. Clin Genet. 2021;99:547\u201357.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n

  • \n

    Park AC, Phillips CL, Pfeiffer FM, Roenneburg DA, Kernien JF, Adams SM, et al. Homozygosity and heterozygosity for null Col5a2 alleles produce embryonic lethality and a novel classic Ehlers-Danlos Syndrome-related phenotype. Am J Pathol. 2015;185:2000\u201311.<\/p>\n

    Article<\/a>\u00a0
    \n     CAS<\/a>\u00a0
    \n     PubMed<\/a>\u00a0
    \n     PubMed Central<\/a>\u00a0
    \n
    \n Google Scholar<\/a>\u00a0\n <\/p>\n<\/li>\n","protected":false},"excerpt":{"rendered":"Glass I, Swindlehurst C, Aitken D, McCrea W, Boyd E. Interstitial deletion of the long arm of chromosome…\n","protected":false},"author":2,"featured_media":29908,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[3846],"tags":[7445,3967,17906,17908,17907,3968,8747,267,3969,70,16,15],"class_list":{"0":"post-29907","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-genetics","8":"tag-bioinformatics","9":"tag-biomedicine","10":"tag-chromosome-abnormality","11":"tag-cytogenetics","12":"tag-gene-expression","13":"tag-general","14":"tag-genetic-testing","15":"tag-genetics","16":"tag-human-genetics","17":"tag-science","18":"tag-uk","19":"tag-united-kingdom"},"share_on_mastodon":{"url":"https:\/\/pubeurope.com\/@uk\/114358360708799197","error":""},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts\/29907","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/comments?post=29907"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts\/29907\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/media\/29908"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/media?parent=29907"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/categories?post=29907"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/tags?post=29907"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}