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Chromosome 2q23.1 deletion syndrome

MedGen UID:
478720
•Concept ID:
C3277090
•
Disease or Syndrome
Synonym: 2q23.1 deletion syndrome
 
Cytogenetic location: 2q23.1
 
OMIM®: 156200

Recent clinical studies

Etiology

Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes.
Mullegama SV, Klein SD, Williams SR, Innis JW, Probst FJ, Haldeman-Englert C, Martinez-Agosto JA, Yang Y, Tian Y, Elsea SH, Ezashi T
Sci Rep 2021 May 28;11(1):11295. doi: 10.1038/s41598-021-90798-z. PMID: 34050248Free PMC Article
Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND).
Mullegama SV, Elsea SH
Eur J Hum Genet 2016 Aug;24(9):1235-43. Epub 2016 May 25 doi: 10.1038/ejhg.2016.35. PMID: 27222293Free PMC Article
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. Epub 2013 Apr 16 doi: 10.1038/mp.2013.42. PMID: 23587880Free PMC Article
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. PMID: 21981781Free PMC Article

Diagnosis

Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND).
Mullegama SV, Elsea SH
Eur J Hum Genet 2016 Aug;24(9):1235-43. Epub 2016 May 25 doi: 10.1038/ejhg.2016.35. PMID: 27222293Free PMC Article
If not Angelman, what is it? A review of Angelman-like syndromes.
Tan WH, Bird LM, Thibert RL, Williams CA
Am J Med Genet A 2014 Apr;164A(4):975-92. doi: 10.1002/ajmg.a.36416. PMID: 24779060
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. Epub 2013 May 1 doi: 10.1038/ejhg.2013.67. PMID: 23632792Free PMC Article
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. PMID: 21981781Free PMC Article
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, Moloney S, 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 2010 Feb;18(2):163-70. Epub 2009 Oct 7 doi: 10.1038/ejhg.2009.152. PMID: 19809484Free PMC Article

Therapy

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. Epub 2012 Mar 9 doi: 10.1002/ajmg.a.35235. PMID: 22407754

Prognosis

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 2019 Aug;7(8):e849. Epub 2019 Jul 9 doi: 10.1002/mgg3.849. PMID: 31290275Free PMC Article
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. Epub 2009 Nov 11 doi: 10.1038/ejhg.2009.199. PMID: 19904302Free PMC Article

Clinical prediction guides

New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature review.
Pichiecchio A, Vitale G, Caporali C, Parazzini C, Milani D, Recalcati MP, D'Amico L, Signorini S, Balottin U, Bastianello S
BMC Med Genomics 2018 Sep 29;11(1):87. doi: 10.1186/s12920-018-0405-3. PMID: 30268123Free PMC Article
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(5):e565. doi: 10.1038/tp.2015.56. PMID: 25966365Free PMC Article
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. Epub 2013 May 1 doi: 10.1038/ejhg.2013.67. PMID: 23632792Free PMC Article
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. Epub 2013 Mar 12 doi: 10.1002/ajmg.a.35768. PMID: 23494922
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. PMID: 21981781Free PMC Article

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