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Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities.

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.

Mol Psychiatry. 2014 Mar;19(3):368-79. doi: 10.1038/mp.2013.42. Epub 2013 Apr 16.


Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.

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.

Am J Hum Genet. 2011 Oct 7;89(4):551-63. doi: 10.1016/j.ajhg.2011.09.011.


Extended spectrum of MBD5 mutations in neurodevelopmental disorders.

Bonnet C, Ali Khan A, Bresso E, Vigouroux C, Béri M, Lejczak S, Deemer B, Andrieux J, Philippe C, Moncla A, Giurgea I, Devignes MD, Leheup B, Jonveaux P.

Eur J Hum Genet. 2013 Dec;21(12):1457-61. doi: 10.1038/ejhg.2013.22. Epub 2013 Feb 20.


Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.

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.

Eur J Hum Genet. 2014 Jan;22(1):57-63. doi: 10.1038/ejhg.2013.67. Epub 2013 May 1.


A cryptic microdeletion including MBD5 occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity.

Shichiji M, Ito Y, Shimojima K, Nakamu H, Oguni H, Osawa M, Yamamoto T.

Am J Med Genet A. 2013 Apr;161A(4):850-5. doi: 10.1002/ajmg.a.35768. Epub 2013 Mar 12.


2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features.

Noh GJ, Graham JM Jr.

Eur J Med Genet. 2012 May;55(5):354-7. doi: 10.1016/j.ejmg.2012.05.003. Epub 2012 May 29.


2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features.

Noh GJ, Graham JM Jr.

Eur J Med Genet. 2012 Jan;55(1):59-62. doi: 10.1016/j.ejmg.2011.10.001. Epub 2011 Oct 24.


MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith-Magenis and fragile X syndromes.

Mullegama SV, Pugliesi L, Burns B, Shah Z, Tahir R, Gu Y, Nelson DL, Elsea SH.

Eur J Hum Genet. 2015 Jun;23(6):781-9. doi: 10.1038/ejhg.2014.200. Epub 2014 Oct 1.


Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures.

Williams SR, Mullegama SV, Rosenfeld JA, Dagli AI, Hatchwell E, Allen WP, Williams CA, Elsea SH.

Eur J Hum Genet. 2010 Apr;18(4):436-41. doi: 10.1038/ejhg.2009.199. Epub 2009 Nov 11.


Disruption of Mbd5 in mice causes neuronal functional deficits and neurobehavioral abnormalities consistent with 2q23.1 microdeletion syndrome.

Camarena V, Cao L, Abad C, Abrams A, Toledo Y, Araki K, Araki M, Walz K, Young JI.

EMBO Mol Med. 2014 Jul 7;6(8):1003-15. doi: 10.15252/emmm.201404044.


Phenotypic and molecular convergence of 2q23.1 deletion syndrome with other neurodevelopmental syndromes associated with autism spectrum disorder.

Mullegama SV, Alaimo JT, Chen L, Elsea SH.

Int J Mol Sci. 2015 Apr 7;16(4):7627-43. doi: 10.3390/ijms16047627.


A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion.

Du X, An Y, Yu L, Liu R, Qin Y, Guo X, Sun D, Zhou S, Wu B, Jiang YH, Wang Y.

BMC Med Genet. 2014 May 29;15:62. doi: 10.1186/1471-2350-15-62.


Intragenic MBD5 familial deletion variant does not negatively impact MBD5 mRNA expression.

Mullegama SV, Elsea SH.

Mol Cytogenet. 2014 Nov 19;7(1):80. doi: 10.1186/s13039-014-0080-9. eCollection 2014.


Neurodevelopmental features in 2q23.1 microdeletion syndrome: report of a new patient with intractable seizures and review of literature.

Motobayashi M, Nishimura-Tadaki A, Inaba Y, Kosho T, Miyatake S, Niimi T, Nishimura T, Wakui K, Fukushima Y, Matsumoto N, Koike K.

Am J Med Genet A. 2012 Apr;158A(4):861-8. doi: 10.1002/ajmg.a.35235. Epub 2012 Mar 9. Review.


The methyl binding domain containing protein MBD5 is a transcriptional regulator responsible for 2q23.1 deletion syndrome.

Walz K, Young JI.

Rare Dis. 2014 Nov 3;2(1):e967151. doi: 10.4161/2167549X.2014.967151. eCollection 2014.


The essential role of Mbd5 in the regulation of somatic growth and glucose homeostasis in mice.

Du Y, Liu B, Guo F, Xu G, Ding Y, Liu Y, Sun X, Xu G.

PLoS One. 2012;7(10):e47358. doi: 10.1371/journal.pone.0047358. Epub 2012 Oct 15.


Clinical and molecular MBD5-neurodevelopmental disorder (MAND).

Mullegama SV, Elsea SH.

Eur J Hum Genet. 2016 May 25. doi: 10.1038/ejhg.2016.35. [Epub ahead of print]


2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features.

Chung BH, Stavropoulos J, Marshall CR, Weksberg R, Scherer SW, Yoon G.

Am J Med Genet A. 2011 Feb;155A(2):424-9. doi: 10.1002/ajmg.a.33821.


Severe intellectual disability and autistic features associated with microduplication 2q23.1.

Chung BH, Mullegama S, Marshall CR, Lionel AC, Weksberg R, Dupuis L, Brick L, Li C, Scherer SW, Aradhya S, Stavropoulos DJ, Elsea SH, Mendoza-Londono R.

Eur J Hum Genet. 2012 Apr;20(4):398-403. doi: 10.1038/ejhg.2011.199. Epub 2011 Nov 16.


A molecular model for neurodevelopmental disorders.

Gigek CO, Chen ES, Ota VK, Maussion G, Peng H, Vaillancourt K, Diallo AB, Lopez JP, Crapper L, Vasuta C, Chen GG, Ernst C.

Transl Psychiatry. 2015 May 12;5:e565. doi: 10.1038/tp.2015.56.

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