Koolen-de Vries Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/koolen-de-vries-syndrome

Koolen-de Vries syndrome is a disorder characterized by developmental delay and mild to moderate intellectual disability. People with this disorder typically have a disposition that is described as cheerful, sociable, and cooperative. They usually have weak muscle tone (hypotonia) in childhood. About half have recurrent seizures (epilepsy).

genetic conditions

References

Dubourg C, Sanlaville D, Doco-Fenzy M, Le Caignec C, Missirian C, Jaillard S, Schluth-Bolard C, Landais E, Boute O, Philip N, Toutain A, David A, Edery P,Moncla A, Martin-Coignard D, Vincent-Delorme C, Mortemousque I, Duban-Bedu B,Drunat S, Beri M, Mosser J, Odent S, David V, Andrieux J. Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients withmental retardation. Eur J Med Genet. 2011 Mar-Apr;54(2):144-51. doi:10.1016/j.ejmg.2010.11.003.
Egger JI, Wingbermühle E, Verhoeven WM, Dijkman M, Radke S, de Bruijn ER, deVries B, Kessels RP, Koolen D. Hypersociability in the behavioral phenotype of17q21.31 microdeletion syndrome. Am J Med Genet A. 2013 Jan;161A(1):21-6. doi:10.1002/ajmg.a.35652.
Itsara A, Vissers LE, Steinberg KM, Meyer KJ, Zody MC, Koolen DA, de Ligt J,Cuppen E, Baker C, Lee C, Graves TA, Wilson RK, Jenkins RB, Veltman JA, EichlerEE. Resolving the breakpoints of the 17q21.31 microdeletion syndrome withnext-generation sequencing. Am J Hum Genet. 2012 Apr 6;90(4):599-613. doi:10.1016/j.ajhg.2012.02.013.
Koolen DA, Kramer JM, Neveling K, Nillesen WM, Moore-Barton HL, Elmslie FV,Toutain A, Amiel J, Malan V, Tsai AC, Cheung SW, Gilissen C, Verwiel ET, Martens S, Feuth T, Bongers EM, de Vries P, Scheffer H, Vissers LE, de Brouwer AP,Brunner HG, Veltman JA, Schenck A, Yntema HG, de Vries BB. Mutations in thechromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. NatGenet. 2012 Apr 29;44(6):639-41. doi: 10.1038/ng.2262.
Koolen DA, Morgan A, de Vries BBA. Koolen-de Vries Syndrome. 2010 Jan 26[updated 2019 Jun 13]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): Universityof Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK24676/
Koolen 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 2nd, Garrett JM, WiechertMA, 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, VeltmanJA, Zuffardi O, Eichler EE, de Vries BB. Clinical and molecular delineation ofthe 17q21.31 microdeletion syndrome. J Med Genet. 2008 Nov;45(11):710-20. doi:10.1136/jmg.2008.058701.Aug;46(8):576.
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. Anew chromosome 17q21.31 microdeletion syndrome associated with a common inversionpolymorphism. Nat Genet. 2006 Sep;38(9):999-1001.
Sharkey FH, Morrison N, Murray R, Iremonger J, Stephen J, Maher E, Tolmie J,Jackson AP. 17q21.31 microdeletion syndrome: further expanding the clinicalphenotype. Cytogenet Genome Res. 2009;127(1):61-6. doi: 10.1159/000279260.
Stefansson H, Helgason A, Thorleifsson G, Steinthorsdottir V, Masson G,Barnard J, Baker A, Jonasdottir A, Ingason A, Gudnadottir VG, Desnica N, Hicks A,Gylfason A, Gudbjartsson DF, Jonsdottir GM, Sainz J, Agnarsson K, Birgisdottir B,Ghosh S, Olafsdottir A, Cazier JB, Kristjansson K, Frigge ML, Thorgeirsson TE,Gulcher JR, Kong A, Stefansson K. A common inversion under selection inEuropeans. Nat Genet. 2005 Feb;37(2):129-37.
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. Phenotypic expansion and furthercharacterisation of the 17q21.31 microdeletion syndrome. J Med Genet. 2009Jul;46(7):480-9. doi: 10.1136/jmg.2008.065391.Med Genet. 2009 Aug;46(8):576. Bruno, Damien [added].
Zollino M, Orteschi D, Murdolo M, Lattante S, Battaglia D, Stefanini C,Mercuri E, Chiurazzi P, Neri G, Marangi G. Mutations in KANSL1 cause the 17q21.31microdeletion syndrome phenotype. Nat Genet. 2012 Apr 29;44(6):636-8. doi:10.1038/ng.2257.

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Subjects: Genetics & Heredity

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Update Date: 23 Dec 2020

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