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17q21 Microdeletion Syndrome

MedGen UID:
397359
Concept ID:
C2699198
Disease or Syndrome

Definition

A genetic syndrome caused by microdeletions in chromosome 17q21. The microdeletions encompass the MAPT and CRHR1 genes. It is characterized by mental retardation, hypotonia, distinctive facial features (long face, low-set ears, and pear-shaped nose), friendly behavior, and heart defects. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV17q21 Microdeletion Syndrome

Professional guidelines

PubMed

Parthenis C, Panagopoulos P
Ginekol Pol 2021;92(8):597-598. doi: 10.5603/GP.a2021.0157. PMID: 34541634
Jing XY, Huang LY, Zhen L, Han J, Li DZ
J Obstet Gynaecol 2019 Apr;39(3):323-327. Epub 2019 Jan 11 doi: 10.1080/01443615.2018.1519693. PMID: 30634886

Recent clinical studies

Etiology

Prat D, Katowitz WR, Strong A, Katowitz JA
Ophthalmic Genet 2021 Apr;42(2):186-188. Epub 2021 Jan 3 doi: 10.1080/13816810.2020.1868012. PMID: 33393407
Han AM, Kusari A, Soeprono F, Eichenfield LF
Pediatr Dermatol 2019 Jul;36(4):e97-e98. Epub 2019 May 24 doi: 10.1111/pde.13849. PMID: 31125459
Myers KA, Mandelstam SA, Ramantani G, Rushing EJ, de Vries BB, Koolen DA, Scheffer IE
Epilepsia 2017 Jun;58(6):1085-1094. Epub 2017 Apr 25 doi: 10.1111/epi.13746. PMID: 28440867
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 Jul;20(7):729-33. Epub 2012 Feb 1 doi: 10.1038/ejhg.2012.1. PMID: 22293690Free PMC Article
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 Aug;46(8):524-30. Epub 2009 Jun 4 doi: 10.1136/jmg.2008.065367. PMID: 19502243

Diagnosis

Karamik G, Tuysuz B, Isik E, Yilmaz A, Alanay Y, Sunamak EC, Durmusalioglu EA, Ozkinay F, Cetin GO, Ozturk N, Mihci E, Nur B
Am J Med Genet A 2023 Jul;191(7):1814-1825. Epub 2023 Apr 13 doi: 10.1002/ajmg.a.63207. PMID: 37053206
Han AM, Kusari A, Soeprono F, Eichenfield LF
Pediatr Dermatol 2019 Jul;36(4):e97-e98. Epub 2019 May 24 doi: 10.1111/pde.13849. PMID: 31125459
Tan WH, Bird LM, Thibert RL, Williams CA
Am J Med Genet A 2014 Apr;164A(4):975-92. doi: 10.1002/ajmg.a.36416. PMID: 24779060
Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, Williams C, Stalker H, Hamid R, Hannig V, Abdel-Hamid H, Bader P, McCracken E, Niyazov D, Leppig K, Thiese H, Hummel M, Alexander N, Gorski J, Kussmann J, Shashi V, Johnson K, Rehder C, Ballif BC, Shaffer LG, Eichler EE
Nat Genet 2011 Aug 14;43(9):838-46. doi: 10.1038/ng.909. PMID: 21841781Free PMC Article
Slavotinek AM
Hum Genet 2008 Aug;124(1):1-17. Epub 2008 May 30 doi: 10.1007/s00439-008-0513-9. PMID: 18512078

Therapy

Myers KA, Mandelstam SA, Ramantani G, Rushing EJ, de Vries BB, Koolen DA, Scheffer IE
Epilepsia 2017 Jun;58(6):1085-1094. Epub 2017 Apr 25 doi: 10.1111/epi.13746. PMID: 28440867

Prognosis

Prat D, Katowitz WR, Strong A, Katowitz JA
Ophthalmic Genet 2021 Apr;42(2):186-188. Epub 2021 Jan 3 doi: 10.1080/13816810.2020.1868012. PMID: 33393407
Han AM, Kusari A, Soeprono F, Eichenfield LF
Pediatr Dermatol 2019 Jul;36(4):e97-e98. Epub 2019 May 24 doi: 10.1111/pde.13849. PMID: 31125459
Morgan AT, Haaften LV, van Hulst K, Edley C, Mei C, Tan TY, Amor D, Fisher SE, Koolen DA
Eur J Hum Genet 2018 Jan;26(1):75-84. Epub 2017 Dec 11 doi: 10.1038/s41431-017-0035-9. PMID: 29225339Free PMC Article
Altarescu G, Beeri R, Lazer-Derbeko G, Eldar-Geva T, Steinberg A, Levy-Lahad E, Renbaum P
Reprod Biomed Online 2015 Nov;31(5):706-10. Epub 2015 Jul 17 doi: 10.1016/j.rbmo.2015.07.002. PMID: 26380867
Lacaze E, Gruchy N, Penniello-Valette MJ, Plessis G, Richard N, Decamp M, Mittre H, Leporrier N, Andrieux J, Kottler ML, Gerard M
Am J Med Genet A 2013 Oct;161A(10):2582-7. Epub 2013 Aug 8 doi: 10.1002/ajmg.a.36085. PMID: 23929658

Clinical prediction guides

Egger JI, Wingbermühle E, Verhoeven WM, Dijkman M, Radke S, de Bruijn ER, de Vries B, Kessels RP, Koolen D
Am J Med Genet A 2013 Jan;161A(1):21-6. Epub 2012 Nov 20 doi: 10.1002/ajmg.a.35652. PMID: 23169757
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, Eichler EE
Am J Hum Genet 2012 Apr 6;90(4):599-613. doi: 10.1016/j.ajhg.2012.02.013. PMID: 22482802Free PMC Article
Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, Williams C, Stalker H, Hamid R, Hannig V, Abdel-Hamid H, Bader P, McCracken E, Niyazov D, Leppig K, Thiese H, Hummel M, Alexander N, Gorski J, Kussmann J, Shashi V, Johnson K, Rehder C, Ballif BC, Shaffer LG, Eichler EE
Nat Genet 2011 Aug 14;43(9):838-46. doi: 10.1038/ng.909. PMID: 21841781Free PMC Article
Sharkey FH, Morrison N, Murray R, Iremonger J, Stephen J, Maher E, Tolmie J, Jackson AP
Cytogenet Genome Res 2009;127(1):61-6. Epub 2010 Jan 27 doi: 10.1159/000279260. PMID: 20110647
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 Aug;46(8):524-30. Epub 2009 Jun 4 doi: 10.1136/jmg.2008.065367. PMID: 19502243

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