KBG Syndrome

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Xu, C. KBG Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4426 (accessed on 26 September 2026).

Xu C. KBG Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4426. Accessed September 26, 2026.

Xu, Camila. "KBG Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4426 (accessed September 26, 2026).

Xu, C. (2020, December 23). KBG Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4426

Xu, Camila. "KBG Syndrome." Encyclopedia. Web. 23 December, 2020.

KBG Syndrome

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

KBG syndrome is a rare disorder that affects several body systems. "KBG" represents the surname initials of the first families diagnosed with the disorder.

genetic conditions

References

Gallagher D, Voronova A, Zander MA, Cancino GI, Bramall A, Krause MP, Abad C, Tekin M, Neilsen PM, Callen DF, Scherer SW, Keller GM, Kaplan DR, Walz K, Miller FD. Ankrd11 is a chromatin regulator involved in autism that is essential forneural development. Dev Cell. 2015 Jan 12;32(1):31-42. doi:10.1016/j.devcel.2014.11.031.
Kim HJ, Cho E, Park JB, Im WY, Kim HJ. A Korean family with KBG syndromeidentified by ANKRD11 mutation, and phenotypic comparison of ANKRD11 mutation and16q24.3 microdeletion. Eur J Med Genet. 2015 Feb;58(2):86-94. doi:10.1016/j.ejmg.2014.11.003.
Kleyner R, Malcolmson J, Tegay D, Ward K, Maughan A, Maughan G, Nelson L, WangK, Robison R, Lyon GJ. KBG syndrome involving a single-nucleotide duplication in ANKRD11. Cold Spring Harb Mol Case Stud. 2016 Nov;2(6):a001131.
Lo-Castro A, Brancati F, Digilio MC, Garaci FG, Bollero P, Alfieri P, CuratoloP. Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11mutations. Am J Med Genet B Neuropsychiatr Genet. 2013 Jan;162B(1):17-23. doi:10.1002/ajmg.b.32113.
Morel Swols D, Foster J 2nd, Tekin M. KBG syndrome. Orphanet J Rare Dis. 2017 Dec 19;12(1):183. doi: 10.1186/s13023-017-0736-8. Review.
Ockeloen CW, Willemsen MH, de Munnik S, van Bon BW, de Leeuw N, Verrips A,Kant SG, Jones EA, Brunner HG, van Loon RL, Smeets EE, van Haelst MM, van HaaftenG, Nordgren A, Malmgren H, Grigelioniene G, Vermeer S, Louro P, Ramos L, Maal TJ,van Heumen CC, Yntema HG, Carels CE, Kleefstra T. Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations. Eur J Hum Genet. 2015Sep;23(9):1176-85. doi: 10.1038/ejhg.2014.253.J Hum Genet. 2015 Sep;23(9):1270.
Sirmaci A, Spiliopoulos M, Brancati F, Powell E, Duman D, Abrams A, Bademci G,Agolini E, Guo S, Konuk B, Kavaz A, Blanton S, Digilio MC, Dallapiccola B, Young J, Zuchner S, Tekin M. Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. Am J Hum Genet.2011 Aug 12;89(2):289-94. doi: 10.1016/j.ajhg.2011.06.007.
Walz K, Cohen D, Neilsen PM, Foster J 2nd, Brancati F, Demir K, Fisher R,Moffat M, Verbeek NE, Bjørgo K, Lo Castro A, Curatolo P, Novelli G, Abad C, LeiC, Zhang L, Diaz-Horta O, Young JI, Callen DF, Tekin M. Characterization ofANKRD11 mutations in humans and mice related to KBG syndrome. Hum Genet. 2015Feb;134(2):181-90. doi: 10.1007/s00439-014-1509-2.

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Subjects: Genetics & Heredity

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Update Date: 23 Dec 2020

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