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Angelman syndrome due to paternal uniparental disomy of chromosome 15

MedGen UID:
1826078
•Concept ID:
C5680342
•
Disease or Syndrome
Synonyms: Angelman syndrome due to paternal uniparental disomy of chromosome type 15; UPD(15)pat
 
Monarch Initiative: MONDO:0020303
Orphanet: ORPHA98795

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAngelman syndrome due to paternal uniparental disomy of chromosome 15

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
Angelman syndrome: etiology, clinical features, diagnosis, and management of symptoms.
Guerrini R, Carrozzo R, Rinaldi R, Bonanni P
Paediatr Drugs 2003;5(10):647-61. doi: 10.2165/00148581-200305100-00001. PMID: 14510623

Recent clinical studies

Etiology

Uniparental Disomy of Chromosome 15 in Two Cases by Chromosome Microarray: A Lesson Worth Thinking.
Liu S, Zhang K, Song F, Yang Y, Lv Y, Gao M, Liu Y, Gai Z
Cytogenet Genome Res 2017;152(1):1-8. Epub 2017 Jun 24 doi: 10.1159/000477520. PMID: 28647735
Angelman syndrome - insights into a rare neurogenetic disorder.
Buiting K, Williams C, Horsthemke B
Nat Rev Neurol 2016 Oct;12(10):584-93. Epub 2016 Sep 12 doi: 10.1038/nrneurol.2016.133. PMID: 27615419
Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental isodisomy 15.
Ferrer-Bolufer I, Dalmau J, Quiroga R, Oltra S, Orellana C, Monfort S, Roselló M, De La Osa A, Martinez F
J Inherit Metab Dis 2009 Dec;32 Suppl 1:S349-53. Epub 2009 Dec 23 doi: 10.1007/s10545-009-9014-9. PMID: 20033293
Angelman syndrome (AS, MIM 105830).
Van Buggenhout G, Fryns JP
Eur J Hum Genet 2009 Nov;17(11):1367-73. Epub 2009 May 20 doi: 10.1038/ejhg.2009.67. PMID: 19455185Free PMC Article
Prader-Willi and Angelman syndromes. Disorders of genomic imprinting.
Cassidy SB, Schwartz S
Medicine (Baltimore) 1998 Mar;77(2):140-51. doi: 10.1097/00005792-199803000-00005. PMID: 9556704

Diagnosis

Diagnosis of Prader-Willi syndrome and Angelman syndrome by targeted nanopore long-read sequencing.
Yamada M, Okuno H, Okamoto N, Suzuki H, Miya F, Takenouchi T, Kosaki K
Eur J Med Genet 2023 Feb;66(2):104690. Epub 2022 Dec 30 doi: 10.1016/j.ejmg.2022.104690. PMID: 36587803
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 - insights into a rare neurogenetic disorder.
Buiting K, Williams C, Horsthemke B
Nat Rev Neurol 2016 Oct;12(10):584-93. Epub 2016 Sep 12 doi: 10.1038/nrneurol.2016.133. PMID: 27615419
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
Neurologic manifestations of Angelman syndrome.
Thibert RL, Larson AM, Hsieh DT, Raby AR, Thiele EA
Pediatr Neurol 2013 Apr;48(4):271-9. doi: 10.1016/j.pediatrneurol.2012.09.015. PMID: 23498559

Therapy

Comparative molecular approaches in Prader-Willi syndrome diagnosis.
Botezatu A, Puiu M, Cucu N, Diaconu CC, Badiu C, Arsene C, Iancu IV, Plesa A, Anton G
Gene 2016 Jan 10;575(2 Pt 1):353-8. Epub 2015 Sep 1 doi: 10.1016/j.gene.2015.08.058. PMID: 26335514
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
Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15.
Robinson WP, Christian SL, Kuchinka BD, Peñaherrera MS, Das S, Schuffenhauer S, Malcolm S, Schinzel AA, Hassold TJ, Ledbetter DH
Clin Genet 2000 May;57(5):349-58. doi: 10.1034/j.1399-0004.2000.570505.x. PMID: 10852369
Cortical myoclonus in Angelman syndrome.
Guerrini R, De Lorey TM, Bonanni P, Moncla A, Dravet C, Suisse G, Livet MO, Bureau M, Malzac P, Genton P, Thomas P, Sartucci F, Simi P, Serratosa JM
Ann Neurol 1996 Jul;40(1):39-48. doi: 10.1002/ana.410400109. PMID: 8687190

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
Clinical Application of an Innovative Multiplex-Fluorescent-Labeled STRs Assay for Prader-Willi Syndrome and Angelman Syndrome.
Zhang K, Liu S, Feng B, Yang Y, Zhang H, Dong R, Liu Y, Gai Z
PLoS One 2016;11(2):e0147824. Epub 2016 Feb 3 doi: 10.1371/journal.pone.0147824. PMID: 26841067Free PMC Article
Genomic imprinting disorders in humans: a mini-review.
Butler MG
J Assist Reprod Genet 2009 Sep-Oct;26(9-10):477-86. Epub 2009 Oct 21 doi: 10.1007/s10815-009-9353-3. PMID: 19844787Free PMC Article
Prenatal diagnosis of supernumerary marker 15 chromosomes and exclusion of uniparental disomy for chromosome 15.
Cotter PD, Ledesma CT, Dietz LG, Pusso S, Wohlferd MM, Goldberg JD
Prenat Diagn 1999 Aug;19(8):721-6. PMID: 10451515

Clinical prediction guides

Diagnosis of Prader-Willi syndrome and Angelman syndrome by targeted nanopore long-read sequencing.
Yamada M, Okuno H, Okamoto N, Suzuki H, Miya F, Takenouchi T, Kosaki K
Eur J Med Genet 2023 Feb;66(2):104690. Epub 2022 Dec 30 doi: 10.1016/j.ejmg.2022.104690. PMID: 36587803
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
Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental isodisomy 15.
Ferrer-Bolufer I, Dalmau J, Quiroga R, Oltra S, Orellana C, Monfort S, Roselló M, De La Osa A, Martinez F
J Inherit Metab Dis 2009 Dec;32 Suppl 1:S349-53. Epub 2009 Dec 23 doi: 10.1007/s10545-009-9014-9. PMID: 20033293
Angelman syndrome: etiology, clinical features, diagnosis, and management of symptoms.
Guerrini R, Carrozzo R, Rinaldi R, Bonanni P
Paediatr Drugs 2003;5(10):647-61. doi: 10.2165/00148581-200305100-00001. PMID: 14510623
Chromosome 15 uniparental disomy is not frequent in Angelman syndrome.
Knoll JH, Glatt KA, Nicholls RD, Malcolm S, Lalande M
Am J Hum Genet 1991 Jan;48(1):16-21. PMID: 1985457Free PMC Article

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