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Xu, C. MBD5-Associated Neurodevelopmental Disorder. Encyclopedia. Available online: https://encyclopedia.pub/entry/4557 (accessed on 25 September 2026).
Xu C. MBD5-Associated Neurodevelopmental Disorder. Encyclopedia. Available at: https://encyclopedia.pub/entry/4557. Accessed September 25, 2026.
Xu, Camila. "MBD5-Associated Neurodevelopmental Disorder" Encyclopedia, https://encyclopedia.pub/entry/4557 (accessed September 25, 2026).
Xu, C. (2020, December 24). MBD5-Associated Neurodevelopmental Disorder. In Encyclopedia. https://encyclopedia.pub/entry/4557
Xu, Camila. "MBD5-Associated Neurodevelopmental Disorder." Encyclopedia. Web. 24 December, 2020.
MBD5-Associated Neurodevelopmental Disorder
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/mbd5-associated-neurodevelopmental-disorder

MBD5-associated neurodevelopmental disorder (MAND) is a condition that affects neurological and physical development.

genetic conditions

References

  1. Hodge JC, Mitchell E, Pillalamarri V, Toler TL, Bartel F, Kearney HM, Zou YS, Tan WH, Hanscom C, Kirmani S, Hanson RR, Skinner SA, Rogers RC, Everman DB, Boyd E, Tapp C, Mullegama SV, Keelean-Fuller D, Powell CM, Elsea SH, Morton CC,Gusella JF, DuPont B, Chaubey A, Lin AE, Talkowski ME. Disruption of MBD5contributes to a spectrum of psychopathology and neurodevelopmentalabnormalities. Mol Psychiatry. 2014 Mar;19(3):368-79. doi: 10.1038/mp.2013.42.
  2. Mullegama SV, Elsea SH. Clinical and Molecular Aspects of MBD5-AssociatedNeurodevelopmental Disorder (MAND). Eur J Hum Genet. 2016 Aug;24(9):1235-43. doi:10.1038/ejhg.2016.35.Aug;24(9):1376.
  3. Mullegama SV, Pugliesi L, Burns B, Shah Z, Tahir R, Gu Y, Nelson DL, Elsea SH.MBD5 haploinsufficiency is associated with sleep disturbance and disruptscircadian pathways common to Smith-Magenis and fragile X syndromes. Eur J HumGenet. 2015 Jun;23(6):781-9. doi: 10.1038/ejhg.2014.200.
  4. Mullegama SV, Rosenfeld JA, Orellana C, van Bon BW, Halbach S, Repnikova EA,Brick L, Li C, Dupuis L, Rosello M, Aradhya S, Stavropoulos DJ, Manickam K,Mitchell E, Hodge JC, Talkowski ME, Gusella JF, Keller K, Zonana J, Schwartz S,Pyatt RE, Waggoner DJ, Shaffer LG, Lin AE, de Vries BB, Mendoza-Londono R, Elsea SH. Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 inautism spectrum disorder. Eur J Hum Genet. 2014 Jan;22(1):57-63. doi:10.1038/ejhg.2013.67.
  5. Tadros S, Wang R, Waters JJ, Waterman C, Collins AL, Collinson MN, Ahn JW,Josifova D, Chetan R, Kumar A. Inherited 2q23.1 microdeletions involving the MBD5locus. Mol Genet Genomic Med. 2017 Aug 8;5(5):608-613. doi: 10.1002/mgg3.316.
  6. Talkowski ME, Mullegama SV, Rosenfeld JA, van Bon BW, Shen Y, Repnikova EA,Gastier-Foster J, Thrush DL, Kathiresan S, Ruderfer DM, Chiang C, Hanscom C,Ernst C, Lindgren AM, Morton CC, An Y, Astbury C, Brueton LA, Lichtenbelt KD,Ades LC, Fichera M, Romano C, Innis JW, Williams CA, Bartholomew D, Van Allen MI,Parikh A, Zhang L, Wu BL, Pyatt RE, Schwartz S, Shaffer LG, de Vries BB, Gusella JF, Elsea SH. Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as asingle causal locus of intellectual disability, epilepsy, and autism spectrumdisorder. Am J Hum Genet. 2011 Oct 7;89(4):551-63. doi:10.1016/j.ajhg.2011.09.011.
  7. Walz K, Young JI. The methyl binding domain containing protein MBD5 is atranscriptional regulator responsible for 2q23.1 deletion syndrome. Rare Dis.2014 Nov 3;2(1):e967151. doi: 10.4161/2167549X.2014.967151.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Camila Xu
View Times: 1.6K
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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