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Literature DB >> 26022164

Prader-Willi, Angelman, and 15q11-q13 Duplication Syndromes.

Abstract

Three distinct neurodevelopmental disorders arise primarily from deletions or duplications that occur at the 15q11-q13 locus: Prader-Willi syndrome, Angelman syndrome, and 15q11-q13 duplication syndrome. Each of these disorders results from the loss of function or overexpression of at least 1 imprinted gene. This article discusses the clinical background, genetic cause, diagnostic strategy, and management of each of these 3 disorders.

Entities: Chemical Disease Gene Species

Keywords: Angelman syndrome; Chromosome 15q11-q13 duplication; Copy number variation; DNA methylation; Genomic imprinting; Prader-Willi syndrome; SNRPN; UBE3A

Mesh：

Year: 2015 PMID： 26022164 PMCID： PMC4449422 DOI： 10.1016/j.pcl.2015.03.004

Source DB: PubMed Journal: Pediatr Clin North Am ISSN： 0031-3955 Impact factor: 3.278

81 in total

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Journal: J Med Genet Date: 1992-06 Impact factor: 6.318

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Journal: Clin Genet Date: 2004-12 Impact factor: 4.438

4. Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.

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5. The snoRNA MBII-52 (SNORD 115) is processed into smaller RNAs and regulates alternative splicing.

Authors: Shivendra Kishore; Amit Khanna; Zhaiyi Zhang; Jingyi Hui; Piotr J Balwierz; Mihaela Stefan; Carol Beach; Robert D Nicholls; Mihaela Zavolan; Stefan Stamm
Journal: Hum Mol Genet Date: 2010-01-06 Impact factor: 6.150

6. The Angelman syndrome protein Ube3a/E6AP is required for Golgi acidification and surface protein sialylation.

Authors: Kathryn H Condon; Jianghai Ho; Camenzind G Robinson; Cyril Hanus; Michael D Ehlers
Journal: J Neurosci Date: 2013-02-27 Impact factor: 6.167

7. Hypogonadism in females with Prader-Willi syndrome from infancy to adulthood: variable combinations of a primary gonadal defect and hypothalamic dysfunction.

Authors: Talia Eldar-Geva; Harry J Hirsch; Fortu Benarroch; Orit Rubinstein; Varda Gross-Tsur
Journal: Eur J Endocrinol Date: 2009-11-27 Impact factor: 6.664

8. Successful early dietary intervention avoids obesity in patients with Prader-Willi syndrome: a ten-year follow-up.

Authors: H Schmidt; S Bechtold-Dalla Pozza; W Bonfig; H P Schwarz; K Dokoupil
Journal: J Pediatr Endocrinol Metab Date: 2008-07 Impact factor: 1.634

9. snoTARGET shows that human orphan snoRNA targets locate close to alternative splice junctions.

Authors: Peter S Bazeley; Valery Shepelev; Zohreh Talebizadeh; Merlin G Butler; Larisa Fedorova; Vadim Filatov; Alexei Fedorov
Journal: Gene Date: 2007-11-21 Impact factor: 3.688

10. Exogenous melatonin for sleep problems in individuals with intellectual disability: a meta-analysis.

Authors: Wiebe Braam; Marcel G Smits; Robert Didden; Hubert Korzilius; Ingeborg M Van Geijlswijk; Leopold M G Curfs
Journal: Dev Med Child Neurol Date: 2009-05 Impact factor: 5.449

38 in total

Review 1. Long noncoding RNA and its contribution to autism spectrum disorders.

Authors: Jie Tang; Yizhen Yu; Wei Yang
Journal: CNS Neurosci Ther Date: 2017-06-20 Impact factor: 5.243

2. Prediction of a rare chromosomal aberration simultaneously with next generation sequencing-based comprehensive chromosome screening in human preimplantation embryos for recurrent pregnancy loss.

Authors: Yi-Xuan Lee; Chien-Wen Chen; Yi-Hui Lin; Chii-Ruey Tzeng; Chi-Huang Chen
Journal: J Assist Reprod Genet Date: 2017-09-30 Impact factor: 3.412

3. Angelman Syndrome Due to UBE3A Gene Mutation.

Authors: Jyotindra Narayan Goswami; Jitendra Kumar Sahu; Pratibha Singhi
Journal: Indian J Pediatr Date: 2017-12-18 Impact factor: 1.967

Review 4. Hippocampal deficits in neurodevelopmental disorders.

Authors: Yue Li; Minjie Shen; Michael E Stockton; Xinyu Zhao
Journal: Neurobiol Learn Mem Date: 2018-10-12 Impact factor: 2.877

5. The Cost of Raising Individuals with Fragile X or Chromosome 15 Imprinting Disorders in Australia.

Authors: Emma K Baker; Sheena Arora; David J Amor; Perrin Date; Meagan Cross; James O'Brien; Chloe Simons; Carolyn Rogers; Stephen Goodall; Jennie Slee; Chris Cahir; David E Godler
Journal: J Autism Dev Disord Date: 2021-07-22

6. Behavioral characterization of dup15q syndrome: Toward meaningful endpoints for clinical trials.

Authors: Charlotte DiStefano; Rujuta B Wilson; Carly Hyde; Edwin H Cook; Ronald L Thibert; Lawrence T Reiter; Vanessa Vogel-Farley; Joerg Hipp; Shafali Jeste
Journal: Am J Med Genet A Date: 2019-10-26 Impact factor: 2.802

Review 7. Using hiPSCs to model neuropsychiatric copy number variations (CNVs) has potential to reveal underlying disease mechanisms.

Authors: Erin K Flaherty; Kristen J Brennand
Journal: Brain Res Date: 2015-11-12 Impact factor: 3.252