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Angelman syndrome due to imprinting defect in 15q11-q13

MedGen UID:
1826135
•Concept ID:
C5681834
•
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:0018462
Orphanet: ORPHA411515

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAngelman syndrome due to imprinting defect in 15q11-q13

Professional guidelines

PubMed

Genotype-Phenotype Correlations in Angelman Syndrome.
Yang L, Shu X, Mao S, Wang Y, Du X, Zou C
Genes (Basel) 2021 Jun 28;12(7) doi: 10.3390/genes12070987. PMID: 34203304Free PMC Article
Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairment.
Keute M, Miller MT, Krishnan ML, Sadhwani A, Chamberlain S, Thibert RL, Tan WH, Bird LM, Hipp JF
Mol Psychiatry 2021 Jul;26(7):3625-3633. Epub 2020 Aug 13 doi: 10.1038/s41380-020-0858-6. PMID: 32792659Free PMC Article
Genetic counseling in Angelman syndrome: the challenges of multiple causes.
Stalker HJ, Williams CA
Am J Med Genet 1998 Apr 28;77(1):54-9. PMID: 9557895

Recent clinical studies

Etiology

Clinical Utility of Methylation-Specific Multiplex Ligation-Dependent Probe Amplification for the Diagnosis of Prader-Willi Syndrome and Angelman Syndrome.
Kim B, Park Y, Cho SI, Kim MJ, Chae JH, Kim JY, Seong MW, Park SS
Ann Lab Med 2022 Jan 1;42(1):79-88. doi: 10.3343/alm.2022.42.1.79. PMID: 34374352Free PMC Article
Investigation of age-related facial variation among Angelman syndrome patients.
Agbolade O, Nazri A, Yaakob R, Ghani AA, Cheah YK
Sci Rep 2021 Oct 21;11(1):20767. doi: 10.1038/s41598-021-99944-z. PMID: 34675349Free PMC Article
Association of congenital cardiovascular malformation and neuropsychiatric phenotypes with 15q11.2 (BP1-BP2) deletion in the UK Biobank.
Williams SG, Nakev A, Guo H, Frain S, Tenin G, Liakhovitskaia A, Saha P, Priest JR, Hentges KE, Keavney BD
Eur J Hum Genet 2020 Sep;28(9):1265-1273. Epub 2020 Apr 23 doi: 10.1038/s41431-020-0626-8. PMID: 32327713Free PMC Article
Somatic mosaicism in patients with Angelman syndrome and an imprinting defect.
Nazlican H, Zeschnigk M, Claussen U, Michel S, Boehringer S, Gillessen-Kaesbach G, Buiting K, Horsthemke B
Hum Mol Genet 2004 Nov 1;13(21):2547-55. Epub 2004 Sep 22 doi: 10.1093/hmg/ddh296. PMID: 15385437
Genetic counseling in Angelman syndrome: the challenges of multiple causes.
Stalker HJ, Williams CA
Am J Med Genet 1998 Apr 28;77(1):54-9. PMID: 9557895

Diagnosis

Genotype-Phenotype Correlations in Angelman Syndrome.
Yang L, Shu X, Mao S, Wang Y, Du X, Zou C
Genes (Basel) 2021 Jun 28;12(7) doi: 10.3390/genes12070987. PMID: 34203304Free PMC Article
Prader-Willi syndrome: reflections on seminal studies and future therapies.
Chung MS, Langouët M, Chamberlain SJ, Carmichael GG
Open Biol 2020 Sep;10(9):200195. Epub 2020 Sep 23 doi: 10.1098/rsob.200195. PMID: 32961075Free PMC Article
Clinical and genetic aspects of the 15q11.2 BP1-BP2 microdeletion disorder.
Butler MG
J Intellect Disabil Res 2017 Jun;61(6):568-579. Epub 2017 Apr 7 doi: 10.1111/jir.12382. PMID: 28387067Free PMC Article
Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings.
Angulo MA, Butler MG, Cataletto ME
J Endocrinol Invest 2015 Dec;38(12):1249-63. Epub 2015 Jun 11 doi: 10.1007/s40618-015-0312-9. PMID: 26062517Free PMC Article
Angelman Syndrome.
Margolis SS, Sell GL, Zbinden MA, Bird LM
Neurotherapeutics 2015 Jul;12(3):641-50. doi: 10.1007/s13311-015-0361-y. PMID: 26040994Free PMC Article

Therapy

A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome.
Han J, Bichell TJ, Golden S, Anselm I, Waisbren S, Bacino CA, Peters SU, Bird LM, Kimonis V
Orphanet J Rare Dis 2019 Oct 22;14(1):232. doi: 10.1186/s13023-019-1216-0. PMID: 31640736Free PMC Article
Angelman Syndrome.
Margolis SS, Sell GL, Zbinden MA, Bird LM
Neurotherapeutics 2015 Jul;12(3):641-50. doi: 10.1007/s13311-015-0361-y. PMID: 26040994Free PMC Article
Molecular epigenetics of Angelman syndrome.
Lalande M, Calciano MA
Cell Mol Life Sci 2007 Apr;64(7-8):947-60. doi: 10.1007/s00018-007-6460-0. PMID: 17347796
Analysis of the characteristics of epilepsy in 37 patients with the molecular diagnosis of Angelman syndrome.
Galván-Manso M, Campistol J, Conill J, Sanmartí FX
Epileptic Disord 2005 Mar;7(1):19-25. PMID: 15741136

Prognosis

Congenital ichthyosis in Prader-Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD.
Muthusamy K, Macke EL, Klee EW, Tebben PJ, Hand JL, Hasadsri L, Marcou CA, Schimmenti LA
Am J Med Genet A 2020 Oct;182(10):2442-2449. Epub 2020 Aug 20 doi: 10.1002/ajmg.a.61792. PMID: 32815268
Angelman Syndrome due to a Maternally Inherited Intragenic Deletion Encompassing Exons 7 and 8 of the UBE3A Gene.
Ververi A, Islam L, Bewes B, Busby L, Sullivan C, Canham N
Cytogenet Genome Res 2017;152(3):132-136. Epub 2017 Sep 13 doi: 10.1159/000480030. PMID: 28898887
Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature.
Le Fevre A, Beygo J, Silveira C, Kamien B, Clayton-Smith J, Colley A, Buiting K, Dudding-Byth T
Am J Med Genet A 2017 Mar;173(3):753-757. doi: 10.1002/ajmg.a.38072. PMID: 28211971
The spectrum of mutations in UBE3A causing Angelman syndrome.
Fang P, Lev-Lehman E, Tsai TF, Matsuura T, Benton CS, Sutcliffe JS, Christian SL, Kubota T, Halley DJ, Meijers-Heijboer H, Langlois S, Graham JM Jr, Beuten J, Willems PJ, Ledbetter DH, Beaudet AL
Hum Mol Genet 1999 Jan;8(1):129-35. doi: 10.1093/hmg/8.1.129. PMID: 9887341
Mutation analysis of UBE3A in Angelman syndrome patients.
Malzac P, Webber H, Moncla A, Graham JM, Kukolich M, Williams C, Pagon RA, Ramsdell LA, Kishino T, Wagstaff J
Am J Hum Genet 1998 Jun;62(6):1353-60. doi: 10.1086/301877. PMID: 9585605Free PMC Article

Clinical prediction guides

Prader-Willi syndrome: reflections on seminal studies and future therapies.
Chung MS, Langouët M, Chamberlain SJ, Carmichael GG
Open Biol 2020 Sep;10(9):200195. Epub 2020 Sep 23 doi: 10.1098/rsob.200195. PMID: 32961075Free PMC Article
Paternal UPD15: further genetic and clinical studies in four Angelman syndrome patients.
Fridman C, Varela MC, Kok F, Diament A, Koiffmann CP
Am J Med Genet 2000 Jun 19;92(5):322-7. doi: 10.1002/1096-8628(20000619)92:5<322::aid-ajmg6>3.0.co;2-y. PMID: 10861661
Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling.
Moncla A, Malzac P, Livet MO, Voelckel MA, Mancini J, Delaroziere JC, Philip N, Mattei JF
J Med Genet 1999 Jul;36(7):554-60. PMID: 10424818Free PMC Article
Mutation analysis of UBE3A in Angelman syndrome patients.
Malzac P, Webber H, Moncla A, Graham JM, Kukolich M, Williams C, Pagon RA, Ramsdell LA, Kishino T, Wagstaff J
Am J Hum Genet 1998 Jun;62(6):1353-60. doi: 10.1086/301877. PMID: 9585605Free PMC Article
Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting.
Williams CA, Zori RT, Stone JW, Gray BA, Cantu ES, Ostrer H
Am J Med Genet 1990 Mar;35(3):350-3. doi: 10.1002/ajmg.1320350308. PMID: 2309781

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