Angelman syndrome due to a point mutation

MedGen UID:: 1842258
•Concept ID:: C5681146
•: Disease or Syndrome

Modes of inheritance:	Not genetically inherited MedGen UID: 988794 •Concept ID: CN307044 • Finding Source: Orphanet clinical entity without genetic inheritance. See: This record Not genetically inherited (Orphanet)

Monarch Initiative:	MONDO:0018461
Orphanet:	ORPHA411511

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAngelman syndrome due to a point mutation

Chromosomal anomaly with epilepsy as a major feature
- Angelman syndrome
  - Angelman syndrome due to a point mutation

Recent clinical studies

Etiology

From first report to clinical trials: a bibliometric overview and visualization of the development of Angelman syndrome research.

Zampeta FI, Distel B, Elgersma Y, Iping R
Hum Genet 2022 Dec;141(12):1837-1848. Epub 2022 May 30 doi: 10.1007/s00439-022-02460-x. PMID: 35637341 Free PMC Article

Angelman syndrome due to a novel splicing mutation of the UBE3A gene.

Sartori S, Anesi L, Polli R, Toldo I, Casarin A, Drigo P, Murgia A
J Child Neurol 2008 Aug;23(8):912-5. Epub 2008 May 16 doi: 10.1177/0883073808316367. PMID: 18487518

Identification of cis- and trans-acting factors possibly modifying the risk of epimutations on chromosome 15.

Zogel C, Böhringer S, Gross S, Varon R, Buiting K, Horsthemke B
Eur J Hum Genet 2006 Jun;14(6):752-8. doi: 10.1038/sj.ejhg.5201602. PMID: 16596119

Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect.

Buiting K, Gross S, Lich C, Gillessen-Kaesbach G, el-Maarri O, Horsthemke B
Am J Hum Genet 2003 Mar;72(3):571-7. Epub 2003 Jan 23 doi: 10.1086/367926. PMID: 12545427 Free PMC Article

Molecular basis and diagnosis of neurogenetic disorders.

Müller U, Graeber MB, Haberhausen G, Köhler A
J Neurol Sci 1994 Jul;124(2):119-40. doi: 10.1016/0022-510x(94)90318-2. PMID: 7964863

See all (5)

Diagnosis

Gene mutations in paediatric epilepsies cause NMDA-pathy, and phasic and tonic GABA-pathy.

Gataullina S, Bienvenu T, Nabbout R, Huberfeld G, Dulac O
Dev Med Child Neurol 2019 Aug;61(8):891-898. Epub 2019 Jan 25 doi: 10.1111/dmcn.14152. PMID: 30680721

Atp10a, a gene adjacent to the PWS/AS gene cluster, is not imprinted in mouse and is insensitive to the PWS-IC.

DuBose AJ, Johnstone KA, Smith EY, Hallett RA, Resnick JL
Neurogenetics 2010 May;11(2):145-51. Epub 2009 Nov 6 doi: 10.1007/s10048-009-0226-9. PMID: 19894069

TCF4 deletions in Pitt-Hopkins Syndrome.

Giurgea I, Missirian C, Cacciagli P, Whalen S, Fredriksen T, Gaillon T, Rankin J, Mathieu-Dramard M, Morin G, Martin-Coignard D, Dubourg C, Chabrol B, Arfi J, Giuliano F, Claude Lambert J, Philip N, Sarda P, Villard L, Goossens M, Moncla A
Hum Mutat 2008 Nov;29(11):E242-51. doi: 10.1002/humu.20859. PMID: 18781613

Angelman syndrome due to a novel splicing mutation of the UBE3A gene.

Sartori S, Anesi L, Polli R, Toldo I, Casarin A, Drigo P, Murgia A
J Child Neurol 2008 Aug;23(8):912-5. Epub 2008 May 16 doi: 10.1177/0883073808316367. PMID: 18487518

Molecular basis and diagnosis of neurogenetic disorders.

Müller U, Graeber MB, Haberhausen G, Köhler A
J Neurol Sci 1994 Jul;124(2):119-40. doi: 10.1016/0022-510x(94)90318-2. PMID: 7964863

See all (7)

Prognosis

Angelman syndrome due to a novel splicing mutation of the UBE3A gene.

Sartori S, Anesi L, Polli R, Toldo I, Casarin A, Drigo P, Murgia A
J Child Neurol 2008 Aug;23(8):912-5. Epub 2008 May 16 doi: 10.1177/0883073808316367. PMID: 18487518

See all (1)