Medical literature

The three papers describing the syndrome for the first time in 2006 have been cited more than 200 times each.

Latest Publications:

Publications

Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype.
Zollino M, Orteschi D, Murdolo M, Lattante S, Battaglia D, Stefanini C, Mercuri E, Chiurazzi P, Neri G, Marangi G.
Nat. Genet. 2012;44:636-8.. PMID: 22544367

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.
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.
Nat. Genet.. 2012;44:639-41.. PMID: 22544363

Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism
Koolen DA, Dupont J, de Leeuw N, Vissers LE, van den Heuvel SP, Bradbury A, Steer J, de Brouwer AP, Ten Kate LP, Nillesen WM, de Vries BB, Parker MJ.
Eur J Hum Genet. 2012;. PMID: 22293690

Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation.
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.
Eur. J. Med. Genet. 2010;. PMID: 21094706

Diversity of human copy number variation and multicopy genes.
Sudmant PH, Kitzman JO, Antonacci F, Alkan C, Malig M, Tsalenko A, Sampas N, Bruhn L, Shendure J; 1000 Genomes Project, Eichler EE.
Science. 2010;29;330(6004):641-6. PMID: 21030649

Recurrent inversion events at 17q21.31 microdeletion locus are linked to the MAPT H2 haplotype.
Rao PN, Li W, Vissers LE, Veltman JA, Ophoff RA.
Cytogenet Genome Res. 2010;129(4):275-9. PMID: 20606400

17q21.31 Microdeletion Syndrome
DA Koolen, BBA de Vries.
GeneReviews at GeneTests: Medical Genetics Information Resource. 2010; Copyright, University of Washington, Seattle, 1997-2010. PMID: 20301783

17q21.31 microdeletion syndrome: further expanding the clinical phenotype.
Sharkey FH, Morrison N, Murray R, Iremonger J, Stephen J, Maher E, Tolmie J, Jackson AP.
Cytogenet Genome Res. 2009;127(1):61-6. PMID: 20110647

17q21.31 microduplication patients are characterized by behavioural problems and poor social interaction
Grisart B, Willatt L, Destrée A, Fryns JP, Rack K, de Ravel T, Rosenfeld J, Vermeesch JR, Verellen-Dumoulin C, Sandford R.
J Med Genet. 2009;46:524-30. PMID: 19502243

Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome.
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.
J Med Genet. 2009;46:480-9. PMID: 19447831

17q21.31: not your average genomic address.
Pennisi E.
Science. 2008;322:842-5. PMID: 18988819

Evolutionary toggling of the MAPT 17q21.31 inversion region.
Zody MC, Jiang Z, Fung HC, Antonacci F, Hillier LW, Cardone MF, Graves TA, Kidd JM, Cheng Z, Abouelleil A, Chen L, Wallis J, Glasscock J, Wilson RK, Reily AD, Duckworth J, Ventura M, Hardy J, Warren WC, Eichler EE.
Nat Genet. 2008;40:1076-83. PMID: 18690220

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.
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, 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
J Med Genet. 2008;45:710-20. PMID: 18628315

A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features.
Kirchhoff M, Bisgaard AM, Duno M, Hansen FJ, Schwartz M
Eur J Med Genet. 2007;50:256-63. PMID: 17576104

Genome structural variation and sporadic disease traits.
Lupski JR
Nat Genet. 2006;38:974-6. PMID: 16941003

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.
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
Nat Genet. 2006;39:999-1001. PMID: 16906164

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability.
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
Nat Genet. 2006;38:1032-7. PMID: 16906163

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.
Sharp AJ, Hansen S, Selzer RR, Cheng Z, Regan R, Hurst JA, Stewart H, Price SM, Blair E, Hennekam RC, Fitzpatrick CA, Segraves R, Richmond TA, Guiver C, Albertson DG, Pinkel D, Eis PS, Schwartz S, Knight SJ, Eichler EE
Nat Genet. 2006;38:1038-42. PMID: 16906162