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Prader-Willi syndrome due to paternal 15q11q13 deletion

MedGen UID:
1826129
•Concept ID:
C5681699
•
Disease or Syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0020301
Orphanet: ORPHA98793

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPrader-Willi syndrome due to paternal 15q11q13 deletion

Professional guidelines

PubMed

Endocrine features of Prader-Willi syndrome: a narrative review focusing on genotype-phenotype correlation.
Madeo SF, Zagaroli L, Vandelli S, Calcaterra V, Crinò A, De Sanctis L, Faienza MF, Fintini D, Guazzarotti L, Licenziati MR, Mozzillo E, Pajno R, Scarano E, Street ME, Wasniewska M, Bocchini S, Bucolo C, Buganza R, Chiarito M, Corica D, Di Candia F, Francavilla R, Fratangeli N, Improda N, Morabito LA, Mozzato C, Rossi V, Schiavariello C, Farello G, Iughetti L, Salpietro V, Salvatoni A, Giordano M, Grugni G, Delvecchio M
Front Endocrinol (Lausanne) 2024;15:1382583. Epub 2024 Apr 26 doi: 10.3389/fendo.2024.1382583. PMID: 38737552Free PMC Article
The Spectrum of the Prader-Willi-like Pheno- and Genotype: A Review of the Literature.
Juriaans AF, Kerkhof GF, Hokken-Koelega ACS
Endocr Rev 2022 Jan 12;43(1):1-18. doi: 10.1210/endrev/bnab026. PMID: 34460908
Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update.
Butler MG, Miller JL, Forster JL
Curr Pediatr Rev 2019;15(4):207-244. doi: 10.2174/1573396315666190716120925. PMID: 31333129Free PMC Article

Recent clinical studies

Etiology

Genetic subtypes and phenotypic characteristics of 110 patients with Prader-Willi syndrome.
Zhang L, Liu X, Zhao Y, Wang Q, Zhang Y, Gao H, Zhang B, Cui W, Zhao Y
Ital J Pediatr 2022 Jul 23;48(1):121. doi: 10.1186/s13052-022-01319-1. PMID: 35870983Free PMC Article
The Spectrum of the Prader-Willi-like Pheno- and Genotype: A Review of the Literature.
Juriaans AF, Kerkhof GF, Hokken-Koelega ACS
Endocr Rev 2022 Jan 12;43(1):1-18. doi: 10.1210/endrev/bnab026. PMID: 34460908
Clinical Observations and Treatment Approaches for Scoliosis in Prader-Willi Syndrome.
van Bosse HJP, Butler MG
Genes (Basel) 2020 Feb 28;11(3) doi: 10.3390/genes11030260. PMID: 32121146Free PMC Article
Prader-Willi syndrome and early-onset morbid obesity NIH rare disease consortium: A review of natural history study.
Butler MG, Kimonis V, Dykens E, Gold JA, Miller J, Tamura R, Driscoll DJ
Am J Med Genet A 2018 Feb;176(2):368-375. Epub 2017 Dec 22 doi: 10.1002/ajmg.a.38582. PMID: 29271568Free PMC Article
Prader-Willi syndrome: From genetics to behaviour, with special focus on appetite treatments.
Griggs JL, Sinnayah P, Mathai ML
Neurosci Biobehav Rev 2015 Dec;59:155-72. Epub 2015 Oct 22 doi: 10.1016/j.neubiorev.2015.10.003. PMID: 26475993

Diagnosis

Endocrine features of Prader-Willi syndrome: a narrative review focusing on genotype-phenotype correlation.
Madeo SF, Zagaroli L, Vandelli S, Calcaterra V, Crinò A, De Sanctis L, Faienza MF, Fintini D, Guazzarotti L, Licenziati MR, Mozzillo E, Pajno R, Scarano E, Street ME, Wasniewska M, Bocchini S, Bucolo C, Buganza R, Chiarito M, Corica D, Di Candia F, Francavilla R, Fratangeli N, Improda N, Morabito LA, Mozzato C, Rossi V, Schiavariello C, Farello G, Iughetti L, Salpietro V, Salvatoni A, Giordano M, Grugni G, Delvecchio M
Front Endocrinol (Lausanne) 2024;15:1382583. Epub 2024 Apr 26 doi: 10.3389/fendo.2024.1382583. PMID: 38737552Free PMC Article
The Spectrum of the Prader-Willi-like Pheno- and Genotype: A Review of the Literature.
Juriaans AF, Kerkhof GF, Hokken-Koelega ACS
Endocr Rev 2022 Jan 12;43(1):1-18. doi: 10.1210/endrev/bnab026. PMID: 34460908
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
Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update.
Butler MG, Miller JL, Forster JL
Curr Pediatr Rev 2019;15(4):207-244. doi: 10.2174/1573396315666190716120925. PMID: 31333129Free 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

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
Effect of semaglutide on weight loss and glycaemic control in patients with Prader-Willi Syndrome and type 2 diabetes.
Giménez-Palop O, Romero A, Casamitjana L, Pareja R, Rigla M, Caixàs A
Endocrinol Diabetes Nutr (Engl Ed) 2024 Feb;71(2):83-87. doi: 10.1016/j.endien.2023.12.001. PMID: 38553173
Comparison of perinatal factors in deletion versus uniparental disomy in Prader-Willi syndrome.
Gold JA, Mahmoud R, Cassidy SB, Kimonis V
Am J Med Genet A 2018 May;176(5):1161-1165. doi: 10.1002/ajmg.a.38679. PMID: 29681103Free PMC Article
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
Psychiatric disorders in Prader-Willi syndrome: epidemiology and management.
Dykens E, Shah B
CNS Drugs 2003;17(3):167-78. doi: 10.2165/00023210-200317030-00003. PMID: 12617696

Prognosis

Multicentre study of maternal and neonatal outcomes in individuals with Prader-Willi syndrome.
Singh P, Mahmoud R, Gold JA, Miller JL, Roof E, Tamura R, Dykens E, Butler MG, Driscoll DJ, Kimonis V
J Med Genet 2018 Sep;55(9):594-598. Epub 2018 May 18 doi: 10.1136/jmedgenet-2017-105118. PMID: 29776967Free PMC Article
Prader-Willi syndrome and early-onset morbid obesity NIH rare disease consortium: A review of natural history study.
Butler MG, Kimonis V, Dykens E, Gold JA, Miller J, Tamura R, Driscoll DJ
Am J Med Genet A 2018 Feb;176(2):368-375. Epub 2017 Dec 22 doi: 10.1002/ajmg.a.38582. PMID: 29271568Free PMC Article
Prader-Willi Syndrome: Clinical Genetics and Diagnostic Aspects with Treatment Approaches.
Butler MG, Manzardo AM, Forster JL
Curr Pediatr Rev 2016;12(2):136-66. doi: 10.2174/1573396312666151123115250. PMID: 26592417Free PMC Article
Psychiatric disorders in Prader-Willi syndrome: epidemiology and management.
Dykens E, Shah B
CNS Drugs 2003;17(3):167-78. doi: 10.2165/00023210-200317030-00003. PMID: 12617696
Prader-Willi syndrome: new insights in the behavioural and psychiatric spectrum.
Descheemaeker MJ, Vogels A, Govers V, Borghgraef M, Willekens D, Swillen A, Verhoeven W, Fryns JP
J Intellect Disabil Res 2002 Jan;46(Pt 1):41-50. doi: 10.1046/j.1365-2788.2002.00354.x. PMID: 11851855

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
Clinical Trials in Prader-Willi Syndrome: A Review.
Mahmoud R, Kimonis V, Butler MG
Int J Mol Sci 2023 Jan 21;24(3) doi: 10.3390/ijms24032150. PMID: 36768472Free 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 Observations and Treatment Approaches for Scoliosis in Prader-Willi Syndrome.
van Bosse HJP, Butler MG
Genes (Basel) 2020 Feb 28;11(3) doi: 10.3390/genes11030260. PMID: 32121146Free PMC Article
Psychiatric disorders in Prader-Willi syndrome: epidemiology and management.
Dykens E, Shah B
CNS Drugs 2003;17(3):167-78. doi: 10.2165/00023210-200317030-00003. PMID: 12617696

Recent systematic reviews

Prader-Willi-like phenotypes: a systematic review of their chromosomal abnormalities.
Rocha CF, Paiva CL
Genet Mol Res 2014 Mar 31;13(1):2290-8. doi: 10.4238/2014.March.31.9. PMID: 24737477

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