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MBD5 associated neurodevelopmental disorder

MedGen UID:
910851
•Concept ID:
CN241843
•
Disease or Syndrome

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
MBD5-related intellectual disability in a Vietnamese child.
Le TNU, Ha TMT
Am J Med Genet A 2021 Apr;185(4):1321-1323. Epub 2021 Jan 11 doi: 10.1002/ajmg.a.62077. PMID: 33427406
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

Diagnosis

MBD5-related intellectual disability in a Vietnamese child.
Le TNU, Ha TMT
Am J Med Genet A 2021 Apr;185(4):1321-1323. Epub 2021 Jan 11 doi: 10.1002/ajmg.a.62077. PMID: 33427406
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
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 2017 Oct;60(10):559-564. Epub 2017 Aug 12 doi: 10.1016/j.ejmg.2017.08.003. PMID: 28807762
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

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
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 2017 Oct;60(10):559-564. Epub 2017 Aug 12 doi: 10.1016/j.ejmg.2017.08.003. PMID: 28807762

Clinical prediction guides

Composite Sleep Problems Observed Across Smith-Magenis Syndrome, MBD5-Associated Neurodevelopmental Disorder, Pitt-Hopkins Syndrome, and ASD.
Gandhi A, Zhou D, Alaimo J, Chon E, Fountain MD, Elsea SH
J Autism Dev Disord 2021 Jun;51(6):1852-1865. doi: 10.1007/s10803-020-04666-2. PMID: 32845423
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 2017 Oct;60(10):559-564. Epub 2017 Aug 12 doi: 10.1016/j.ejmg.2017.08.003. PMID: 28807762

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