| Germline mosaicism in a family with MBD5 haploinsufficiency. | Germline mosaicism in a family with MBD5 haploinsufficiency.
Bhatia M, Cavalleri GL, White M, Delanty N, Sweeney BJ, Costello DJ, Greally MT, Benson KA., Free PMC Article | 01/7/2023 |
| [Clinical phenotypes and genetic features of epilepsy children with MBD5 gene variants]. | [Clinical phenotypes and genetic features of epilepsy children with MBD5 gene variants].
Jing XW, Cheng MM, Niu XY, Yang Y, Yang XL, Yang ZX, Zhang YH. | 04/16/2022 |
| Early-Onset Dementia Associated with a Heterozygous, Nonsense, and de novo Variant in the MBD5 Gene. | Early-Onset Dementia Associated with a Heterozygous, Nonsense, and de novo Variant in the MBD5 Gene.
González-Ortega G, Llamas-Velasco S, Arteche-López A, Quesada-Espinosa JF, Puertas-Martín V, Gómez-Grande A, López-Álvarez J, Saiz Díaz RA, Lezana-Rosales JM, Villarejo-Galende A, González de la Aleja J. | 01/8/2022 |
| Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder. | Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder.
Ohori S, Tsuburaya RS, Kinoshita M, Miyagi E, Mizuguchi T, Mitsuhashi S, Frith MC, Matsumoto N. | 09/11/2021 |
| MBD5-related intellectual disability in a Vietnamese child. | MBD5-related intellectual disability in a Vietnamese child.
Le TNU, Ha TMT. | 08/7/2021 |
| Based on segregation analysis of a patient (case 296491) with an intragenic deletion of the MBD5 gene, we classified deletions of exons 3 to 4 of the 5' untranslated region (UTR) of this gene as probably benign. The deletion of exon 3 was shared with the father and paternal uncle, both unaffected | Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.
Di Gregorio E, Riberi E, Belligni EF, Biamino E, Spielmann M, Ala U, Calcia A, Bagnasco I, Carli D, Gai G, Giordano M, Guala A, Keller R, Mandrile G, Arduino C, Maffè A, Naretto VG, Sirchia F, Sorasio L, Ungari S, Zonta A, Zacchetti G, Talarico F, Pappi P, Cavalieri S, Giorgio E, Mancini C, Ferrero M, Brussino A, Savin E, Gandione M, Pelle A, Giachino DF, De Marchi M, Restagno G, Provero P, Cirillo Silengo M, Grosso E, Buxbaum JD, Pasini B, De Rubeis S, Brusco A, Ferrero GB. | 05/19/2018 |
| A novel frameshift mutation c.254_255delGA (p.Arg85Asnfs*6) in the MBD5 gene was identified in a family with intellectual disability and epilepsy. | 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. | 12/9/2017 |
| Circadian rhythm gene expression altered by haploinsufficiency of MBD5. | 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., Free PMC Article | 02/6/2016 |
| Results show that when MBD5 and RAI1 are haploinsufficient, they perturb several common pathways that are linked to neuronal and behavioral development. | 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., Free PMC Article | 01/16/2016 |
| Reduced MBD5 dosage leads to mRNA and microRNA expression patterns and DNA methylation patterns more characteristic of differentiating than proliferating neural stem cells. This balance change may underlie neurodevelopmental disorders. | 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., Free PMC Article | 01/16/2016 |
| We studied and showed that both MBD5 and MBD6 interact with the mammalian PR-DUB Polycomb protein complex in a mutually exclusive manner, and that the MBD of MBD5 and MBD6 is both necessary and sufficient to mediate this interaction. | MBD5 and MBD6 interact with the human PR-DUB complex through their methyl-CpG-binding domain.
Baymaz HI, Fournier A, Laget S, Ji Z, Jansen PW, Smits AH, Ferry L, Mensinga A, Poser I, Sharrocks A, Defossez PA, Vermeulen M. | 05/30/2015 |
| The features associated with a deletion, mutation or duplication of MBD5 and the gene expression changes observed support MBD5 as a dosage-sensitive gene critical for normal development. | 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., Free PMC Article | 02/14/2015 |
| study demonstrates that haploinsufficiency of MBD5 causes diverse phenotypes, yields insight into the spectrum of resulting neurodevelopmental and behavioral psychopathology and provides clinical context for interpretation of MBD5 structural variations. | 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., Free PMC Article | 11/8/2014 |
| 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. | 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., Free PMC Article | 08/9/2014 |
| Identified de novo intragenic deletions of MBD5 in three patients. | 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., Free PMC Article | 08/9/2014 |
| MBD5 was tied to neurodevelopmental disorders following the identification of microdeletions on chromosome 2q22-2q23. | 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., Free PMC Article | 06/1/2013 |
| MBD5 is a single causal locus as shown by 2q23.1 microdeletion syndrome with roles in intellectual disability, epilepsy, and autism spectrum disorder | 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., Free PMC Article | 12/17/2011 |
| 2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features. | 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. | 05/21/2011 |
| MBD5 and MBD6 are unlikely to be methyl-binding proteins, yet they may contribute to the formation or function of heterochromatin. | 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., Free PMC Article | 11/6/2010 |
| Haploinsufficiency of MBD5 is associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures.( | 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., Free PMC Article | 07/5/2010 |