Citations for
1MBD5, MRD1
Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder
Myers KA, Marini C, Carvill GL, McTague A, Panetta J, Stutterd C, Stanley T, Marin S, Nguyen J, Barba C, Rosati A, Scott RH, Mefford HC, Guerrini R, Scheffer IE.
Neurol Genet. Mar 18;7(2):e579. doi: 10.1212/NXG.0000000000000579. 2021
2MBD5, MRD1
A novel MBD5 mutation in an intellectually disabled adult female patient with epilepsy: Suggestive of early onset dementia?
Verhoeven W, Egger J, Kipp J, Verheul-Aan de Wiel J, Ockeloen C, Kleefstra T, Pfundt R.
Mol Genet Genomic Med. Aug;7(8):e849. doi: 10.1002/mgg3.849. Epub 2019 Jul 9. 2019
3MBD5, MRD1
Diagnostic exome sequencing identifies a heterozygous MBD5 frameshift mutation in a family with intellectual disability and epilepsy
Han JY, Lee IG, Jang W, Kim M, Kim Y, Jang JH, Park J.
Eur J Med Genet. Oct;60(10):559-564. doi: 10.1016/j.ejmg.2017.08.003. Epub 2017 Aug 12 2017
4MBD5
Investigation of genes important in neurodevelopment disorders in adult human brain. 2015
Maussion G, Diallo AB, Gigek CO, Chen ES, Crapper L, Théroux JF, Chen GG, Vasuta C, Ernst C.
Hum Genet. Oct;134(10):1037-53. doi: 10.1007/s00439-015-1584-z. Epub 2015 Jul 21 2015
5DEL2Q23, MBD5
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. Aug;6(8):1003-15. doi: 10.15252/emmm.201404044 2014
6DEL2Q23, MBD5
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 161(4):850-5. doi: 10.1002/ajmg.a.35768. Epub 2013 Mar 12. 2013
7MBD5, MRD1
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. Dec;21(12):1457-61. doi: 10.1038/ejhg.2013.22. Epub 2013 Feb 20. 2013
8DEL2Q23.1, MBD5
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 20(4):398-403. doi: 10.1038/ejhg.2011.199. Epub 2011 Nov 16. 2012
9DEL2Q23, MBD5
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 158A(4):861-8. doi: 10.1002/ajmg.a.35235. Epub 2012 Mar 9. 2012
10DEL9Q34, EHMT1, KMT2C, MBD5, NR1I3, SMARCB1
Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability.
Kleefstra T, Kramer JM, Neveling K, Willemsen MH, Koemans TS, Vissers LE, Wissink-Lindhout W, Fenckova M, van den Akker WM, Kasri NN, Nillesen WM, Prescott T, Clark RD, Devriendt K, van Reeuwijk J, de Brouwer AP, Gilissen C, Zhou H, Brunner HG, Veltman JA, Schenck A, van Bokhoven H.
Am J Hum Genet 91(1):73-82. Epub 2012 Jun 21. 2012
11MBD5, MBD6, SETDB1
The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1.
Cukier HN, Lee JM, Ma D, Young JI, Mayo V, Butler BL, Ramsook SS, Rantus JA, Abrams AJ, Whitehead PL, Wright HH, Abramson RK, Haines JL, Cuccaro ML, Pericak-Vance MA, Gilbert JR.
Autism Res 5(6):385-97. doi: 10.1002/aur.1251. Epub 2012 Oct 10. 2012
12DEL2Q23, MBD5
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 155(2):424-9. doi: 10.1002/ajmg.a.33821.PMID: 21271666 2011
13DEL2Q23, MBD5
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 89(4):551-63. 2011
14DEL2Q23, MBD5
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 18(4):436-41. Epub 2009 Nov 11.PMID: 19904302 2010
15DEL2q23, EPC2, MBD5
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.
van Bon BW, Koolen DA, Brueton L, McMullan D, Lichtenbelt KD, Adès LC, Peters G, Gibson K, Novara F, Pramparo T, Dalla Bernardina B, Zoccante L, Balottin U, Piazza F, Pecile V, Gasparini P, Guerci V, Kets M, Pfundt R, de Brouwer AP, Veltman JA, de Leeuw N, Wilson M, Antony J, Reitano S, Luciano D, Fichera M, Romano C, Brunner HG, Zuffardi O, de Vries BB.
Eur J Hum Genet 18(2):163-70. Epub 2009 Oct 7.PMID: 19809484 2010
16MBD5, MBD6
The human proteins MBD5 and MBD6 associate with heterochromatin but they do not bind methylated DNA.
Laget S, Joulie M, Le Masson F, Sasai N, Christians E, Pradhan S, Roberts RJ, Defossez PA.
PLoS One 5(8). pii: e11982.PMID: 20700456 2010
17DEL2Q23, MBD5
2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?
Jaillard S, Dubourg C, Gérard-Blanluet M, Delahaye A, Pasquier L, Dupont C, Henry C, Tabet AC, Lucas J, Aboura A, David V, Benzacken B, Odent S, Pipiras E.
J Med Genet 46(12):847-55. Epub 2008 Sep 23. 2009
18MBD6, MBD5
Comparative study of methyl-CpG-binding domain proteins.
Roloff TC, Ropers HH, Nuber UA.
BMC Genomics 4(1):1. 2003
19ATP10D, BEGAIN, CALCOCO1, CDK5RAP2, CERCAM, CIP2A, DHX36, DHX37, DPP10, DTX2, GPR124, GRAMD1A, HCN3, ISLR2, KANK2, KBTBD2, KBTBD2, KIAA1468, KIAA1522, KLHL1, KMT2C, LRCH2, MARK1, MBD5, MYH7B, NUSAP1, PDZD4, PITPNM2, PLCE1, POGK, POLR3E, PPP2R2D, RACGAP1, RCC2, SCAPER, SDK2, SEMA6D, SH3RF1, SPPL2B, STIM2, TSHZ3, UBAP2, URG4, USP28, VPS18, WDR48, WHRN, ZBTB2, ZNF530
Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
Nagase T, Kikuno R, Ishikawa K, Hirosawa M, Ohara O.
DNA Res 7(2):143-50. 2000