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Angelman syndrome due to maternal 15q11q13 deletion

MedGen UID:
1797757
•Concept ID:
C5566334
•
Disease or Syndrome
Synonym: Angelman syndrome due to maternal monosomy 15q11q13
SNOMED CT: Angelman syndrome due to maternal monosomy 15q11q13 (1162462009)
 
Monarch Initiative: MONDO:0020302
Orphanet: ORPHA98794

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAngelman syndrome due to maternal 15q11q13 deletion

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
Prenatal treatment path for angelman syndrome and other neurodevelopmental disorders.
Zylka MJ
Autism Res 2020 Jan;13(1):11-17. Epub 2019 Sep 6 doi: 10.1002/aur.2203. PMID: 31490639Free 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

Prenatal treatment path for angelman syndrome and other neurodevelopmental disorders.
Zylka MJ
Autism Res 2020 Jan;13(1):11-17. Epub 2019 Sep 6 doi: 10.1002/aur.2203. PMID: 31490639Free PMC Article
Genomic imprinting and the expression of affect in Angelman syndrome: what's in the smile?
Oliver C, Horsler K, Berg K, Bellamy G, Dick K, Griffiths E
J Child Psychol Psychiatry 2007 Jun;48(6):571-9. doi: 10.1111/j.1469-7610.2007.01736.x. PMID: 17537073
Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients.
Moncla A, Malzac P, Voelckel MA, Auquier P, Girardot L, Mattei MG, Philip N, Mattei JF, Lalande M, Livet MO
Eur J Hum Genet 1999 Feb-Mar;7(2):131-9. doi: 10.1038/sj.ejhg.5200258. PMID: 10196695
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
Sister chromatid exchange in families with Angelman or Prader-Willi syndrome.
Webb T
Clin Genet 1994 Aug;46(2):181-6. doi: 10.1111/j.1399-0004.1994.tb04221.x. PMID: 7820928

Diagnosis

Angelman syndrome with a 15q11q13 deletion in a mother and daughter.
Bell S, Butler KM, Drazba KT, Lynch J, Abidi FE, DuPont B, Stevenson RE
Clin Dysmorphol 2022 Apr 1;31(2):91-93. doi: 10.1097/MCD.0000000000000399. PMID: 34775449
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
Prenatal treatment path for angelman syndrome and other neurodevelopmental disorders.
Zylka MJ
Autism Res 2020 Jan;13(1):11-17. Epub 2019 Sep 6 doi: 10.1002/aur.2203. PMID: 31490639Free 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

Relationship of thyroid function with genetic subtypes and treatment with growth hormone in Prader-Willi syndrome.
Schmok T, Surampalli A, Khare M, Zandihaghighi S, Baghbaninogourani R, Patolia B, Gold JA, Naidu A, Cassidy SB, Kimonis VE
Am J Med Genet A 2024 Oct;194(10):e63724. Epub 2024 Jun 4 doi: 10.1002/ajmg.a.63724. PMID: 38837660
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: 17347796Free PMC Article
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

Prenatal treatment path for angelman syndrome and other neurodevelopmental disorders.
Zylka MJ
Autism Res 2020 Jan;13(1):11-17. Epub 2019 Sep 6 doi: 10.1002/aur.2203. PMID: 31490639Free PMC Article
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
Genomic imprinting and the expression of affect in Angelman syndrome: what's in the smile?
Oliver C, Horsler K, Berg K, Bellamy G, Dick K, Griffiths E
J Child Psychol Psychiatry 2007 Jun;48(6):571-9. doi: 10.1111/j.1469-7610.2007.01736.x. PMID: 17537073
UBE3A/E6-AP mutations cause Angelman syndrome.
Kishino T, Lalande M, Wagstaff J
Nat Genet 1997 Jan;15(1):70-3. doi: 10.1038/ng0197-70. PMID: 8988171
A boy with developmental delay and a maternally inherited deletion in 15q11q13.
King M, Hardy C, Asenbauer B, Kilpatrick M, Webb T
J Med Genet 1996 May;33(5):422-5. doi: 10.1136/jmg.33.5.422. PMID: 8733057Free PMC Article

Clinical prediction guides

Expanding deep phenotypic spectrum associated with atypical pathogenic structural variations overlapping 15q11-q13 imprinting region.
Mim RA, Soorajkumar A, Kosaji N, Rahman MM, Sarker S, Karuvantevida N, Eshaque TB, Rahaman MA, Islam A, Chowdhury MSJ, Shams N, Uddin KMF, Akter H, Uddin M
Brain Behav 2024 Apr;14(4):e3437. doi: 10.1002/brb3.3437. PMID: 38616334Free 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
Angelman Syndrome: From Mouse Models to Therapy.
Rotaru DC, Mientjes EJ, Elgersma Y
Neuroscience 2020 Oct 1;445:172-189. Epub 2020 Feb 21 doi: 10.1016/j.neuroscience.2020.02.017. PMID: 32088294
Prenatal treatment path for angelman syndrome and other neurodevelopmental disorders.
Zylka MJ
Autism Res 2020 Jan;13(1):11-17. Epub 2019 Sep 6 doi: 10.1002/aur.2203. PMID: 31490639Free 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

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