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Koolen–De Vries syndrome (KdVS), also known as 17q21.31 microdeletion syndrome, is a rare genetic disorder caused by a deletion of a segment of chromosome 17 which contains six genes. This deletion syndrome was discovered independently in 2006 by three different research groups.[1][2][3][4]
17q21.3 was reported simultaneously in 2006 by three independent groups, with each group reporting several patients, and is now recognised to be one of the more common recurrent microdeletion syndromes.[6] In 2007, a patient with a small duplication in same segment of DNA was described.[7] An overview of the clinical features of the syndrome, by reviewing 22 individuals with a 17q21.31 microdeletion, estimated the disorder is present in 1 in every 16,000 people.[8]
The recurrent deletion is between 500 and 650 kilobases (Kb) in size encompassing at least six genes, among them the microtubule-associated protein tau (MAPT). A review of five patients found the parental chromosome from which the deletion originated carried a common 900kb inversionpolymorphism.[8] The orientation of low copy repeats flanking the deleted segment suggests the inversion in the parental chromosome influences the deletion in the child's chromosome via a non-allelic homologous recombination (NAHR) mechanism.[9]
Diagnosis is established with a chromosome microarray analysis. The symptoms of Koolen–de Vries syndrome can be very variable, and there is no single clinical sign required to establish the diagnosis.[11]
^Tan TY, Aftimos S, Worgan L, Susman R, Wilson M, Ghedia S, Kirk EP, Love D, Ronan A, Darmanian A, Slavotinek A, Hogue J, Moeschler JB, Ozmore J, Widmer R, Bruno D, Savarirayan R, Peters G (2009). "Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome". J Med Genet. 46 (7): 480–9. doi:10.1136/jmg.2008.065391. PMID19447831. S2CID42220574.
^Varela MC, Krepischi-Santos AC, Paz JA, Knijnenburg J, Szuhai K, Rosenberg C, Koiffmann CP (2006). "A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient". Cytogenet Genome Res. 114 (1): 89–92. doi:10.1159/000091934. PMID16717456. S2CID1124145.
^Koolen, David A; Pfundt, Rolph; Linda, Katrin; Beunders, Gea; Veenstra-Knol, Hermine E; Conta, Jessie H; Fortuna, Ana Maria; Gillessen-Kaesbach, Gabriele; Dugan, Sarah; Halbach, Sara; Abdul-Rahman, Omar A; Winesett, Heather M; Chung, Wendy K; Dalton, Marguerite; Dimova, Petia S; Mattina, Teresa; Prescott, Katrina; Zhang, Hui Z; Saal, Howard M; Hehir-Kwa, Jayne Y; Willemsen, Marjolein H; Ockeloen, Charlotte W; Jongmans, Marjolijn C; Van der Aa, Nathalie; Failla, Pinella; Barone, Concetta; Avola, Emanuela; Brooks, Alice S; Kant, Sarina G; Gerkes, Erica H; Firth, Helen V; Õunap, Katrin; Bird, Lynne M; Masser-Frye, Diane; Friedman, Jennifer R; Sokunbi, Modupe A; Dixit, Abhijit; Splitt, Miranda; Kukolich, Mary K; McGaughran, Julie; Coe, Bradley P; Flórez, Jesús; Nadif Kasri, Nael; Brunner, Han G; Thompson, Elizabeth M; Gecz, Jozef; Romano, Corrado; Eichler, Evan E; de Vries, Bert BA (August 26, 2015). "The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant". European Journal of Human Genetics. 24 (5). Springer Science and Business Media LLC: 652–659. doi:10.1038/ejhg.2015.178. ISSN1018-4813. PMC4930086. PMID26306646.
^Shaw-Smith C, Pittman AM, Willatt L, Martin H, Rickman L, Gribble S, Curley R, Cumming S, Dunn C, Kalaitzopoulos D, Porter K, Prigmore E, Krepischi-Santos AC, Varela MC, Koiffmann CP, Lees AJ, Rosenberg C, Firth HV, de Silva R, Carter NP (2006). "Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability". Nat Genet. 38 (9): 1032–7. doi:10.1038/ng1858. PMID16906163. S2CID38047848.
^Kirchhoff M, Bisgaard AM, Duno M, Hansen FJ, Schwartz M (2007). "A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features". Eur J Med Genet. 50 (4): 256–63. doi:10.1016/j.ejmg.2007.05.001. PMID17576104.
^ abKoolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJ, Goldenberg A, Saugier-Veber P, Pfundt R, Vissers LE, Destrée A, Grisart B, Rooms L, Van der Aa N, Field M, Hackett A, Bell K, Nowaczyk MJ, Mancini GM, Poddighe PJ, Schwartz CE, Rossi E, De Gregori M, Antonacci-Fulton LL, McLellan MD, Garrett JM, Wiechert MA, Miner TL, Crosby S, Ciccone R, Willatt L, Rauch A, Zenker M, Aradhya S, Manning MA, Strom TM, Wagenstaller J, Krepischi-Santos AC, Vianna-Morgante AM, Rosenberg C, Price SM, Stewart H, Shaw-Smith C, Brunner HG, Wilkie AO, Veltman JA, Zuffardi O, Eichler EE, De Vries BB (2008). "Clinical and molecular delineation of the 17q21.31 microdeletion syndrome". J Med Genet. 45 (11): 710–20. doi:10.1136/jmg.2008.058701. PMC3071570. PMID18628315.
^Sharp AJ, Hansen S, Selzer RR, et al. (September 2006). "Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome". Nat. Genet. 38 (9): 1038–42. doi:10.1038/ng1862. PMID16906162. S2CID34024895.
^Sharkey FH, Morrison N, Murray R, Iremonger J, Stephen J, Maher E, Tolmie J, Jackson AP (2009). "17q21.31 microdeletion syndrome: further expanding the clinical phenotype". Cytogenet Genome Res. 127 (1): 61–6. doi:10.1159/000279260. PMID20110647. S2CID42477257.
^Koolen DA, Vissers LE, Pfundt R, de Leeuw N, Knight SJ, Regan R, Kooy RF, Reyniers E, Romano C, Fichera M, Schinzel A, Baumer A, Anderlid BM, Schoumans J, Knoers NV, van Kessel AG, Sistermans EA, Veltman JA, Brunner HG, De Vries BB (2006). "A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism". Nat Genet. 38 (9): 999–1001. doi:10.1038/ng1853. PMID16906164. S2CID25422992.
