Literature DB >> 22822384

A 380-kb Duplication in 7p22.3 Encompassing the LFNG Gene in a Boy with Asperger Syndrome.

A T Vulto-van Silfhout1, A F M de Brouwer, N de Leeuw, C C Obihara, H G Brunner, B B A de Vries.   

Abstract

De novo genomic aberrations are considered an important cause of autism spectrum disorders. We describe a de novo 380-kb gain in band p22.3 of chromosome 7 in a patient with Asperger syndrome. This duplicated region contains 9 genes including the LNFG gene that is an important regulator of NOTCH signaling. We suggest that this copy number variation has been a contributive factor to the occurrence of Asperger syndrome in this patient.

Entities:  

Year:  2012        PMID： 22822384      PMCID： PMC3362183          DOI： 10.1159/000336191

Source DB:  PubMed          Journal:  Mol Syndromol        ISSN： 1661-8769


  57 in total

Review 1.  Notch to remember.

Authors:  Rui M Costa; Camilla Drew; Alcino J Silva
Journal:  Trends Neurosci       Date:  2005-08       Impact factor: 13.837

Review 2.  eIF3: a versatile scaffold for translation initiation complexes.

Authors:  Alan G Hinnebusch
Journal:  Trends Biochem Sci       Date:  2006-08-22       Impact factor: 13.807

3.  Activated Notch1 maintains the phenotype of radial glial cells and promotes their adhesion to laminin by upregulating nidogen.

Authors:  Hedong Li; Yu-Wen Chang; Kriti Mohan; Hui-Wen Su; Christopher L Ricupero; Ajoeb Baridi; Ronald P Hart; Martin Grumet
Journal:  Glia       Date:  2008-04-15       Impact factor: 7.452

4.  Lunatic fringe promotes the lateral inhibition of neurogenesis.

Authors:  Nikolas Nikolaou; Tomomi Watanabe-Asaka; Sebastian Gerety; Martin Distel; Reinhard W Köster; David G Wilkinson
Journal:  Development       Date:  2009-06-24       Impact factor: 6.868

5.  European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities.

Authors:  I Feenstra; J Fang; D A Koolen; A Siezen; C Evans; R M Winter; M M Lees; M Riegel; B B A de Vries; C M A Van Ravenswaaij; A Schinzel
Journal:  Eur J Med Genet       Date:  2005-11-07       Impact factor: 2.708

6.  Head circumference in autism and other pervasive developmental disorders.

Authors:  W Woodhouse; A Bailey; M Rutter; P Bolton; G Baird; A Le Couteur
Journal:  J Child Psychol Psychiatry       Date:  1996-09       Impact factor: 8.982

7.  Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.

Authors:  Joseph T Glessner; Kai Wang; Guiqing Cai; Olena Korvatska; Cecilia E Kim; Shawn Wood; Haitao Zhang; Annette Estes; Camille W Brune; Jonathan P Bradfield; Marcin Imielinski; Edward C Frackelton; Jennifer Reichert; Emily L Crawford; Jeffrey Munson; Patrick M A Sleiman; Rosetta Chiavacci; Kiran Annaiah; Kelly Thomas; Cuiping Hou; Wendy Glaberson; James Flory; Frederick Otieno; Maria Garris; Latha Soorya; Lambertus Klei; Joseph Piven; Kacie J Meyer; Evdokia Anagnostou; Takeshi Sakurai; Rachel M Game; Danielle S Rudd; Danielle Zurawiecki; Christopher J McDougle; Lea K Davis; Judith Miller; David J Posey; Shana Michaels; Alexander Kolevzon; Jeremy M Silverman; Raphael Bernier; Susan E Levy; Robert T Schultz; Geraldine Dawson; Thomas Owley; William M McMahon; Thomas H Wassink; John A Sweeney; John I Nurnberger; Hilary Coon; James S Sutcliffe; Nancy J Minshew; Struan F A Grant; Maja Bucan; Edwin H Cook; Joseph D Buxbaum; Bernie Devlin; Gerard D Schellenberg; Hakon Hakonarson
Journal:  Nature       Date:  2009-04-28       Impact factor: 49.962

8.  Strong association of de novo copy number mutations with autism.

Authors:  Jonathan Sebat; B Lakshmi; Dheeraj Malhotra; Jennifer Troge; Christa Lese-Martin; Tom Walsh; Boris Yamrom; Seungtai Yoon; Alex Krasnitz; Jude Kendall; Anthony Leotta; Deepa Pai; Ray Zhang; Yoon-Ha Lee; James Hicks; Sarah J Spence; Annette T Lee; Kaija Puura; Terho Lehtimäki; David Ledbetter; Peter K Gregersen; Joel Bregman; James S Sutcliffe; Vaidehi Jobanputra; Wendy Chung; Dorothy Warburton; Mary-Claire King; David Skuse; Daniel H Geschwind; T Conrad Gilliam; Kenny Ye; Michael Wigler
Journal:  Science       Date:  2007-03-15       Impact factor: 47.728

9.  Deregulation of EIF4E: a novel mechanism for autism.

Authors:  M Neves-Pereira; B Müller; D Massie; J H G Williams; P C M O'Brien; A Hughes; S-B Shen; David St Clair; Z Miedzybrodzka
Journal:  J Med Genet       Date:  2009-06-25       Impact factor: 6.318

10.  Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.

Authors:  Brian J O'Roak; Pelagia Deriziotis; Choli Lee; Laura Vives; Jerrod J Schwartz; Santhosh Girirajan; Emre Karakoc; Alexandra P Mackenzie; Sarah B Ng; Carl Baker; Mark J Rieder; Deborah A Nickerson; Raphael Bernier; Simon E Fisher; Jay Shendure; Evan E Eichler
Journal:  Nat Genet       Date:  2011-05-15       Impact factor: 38.330
View more
  3 in total

1.  A Case of the 7p22.2 Microduplication: Refinement of the Critical Chromosome Region for 7p22 Duplication Syndrome.

Authors:  Devin M Cox; Merlin G Butler
Journal:  J Pediatr Genet       Date:  2015-03

2.  Screening for Subtelomeric Rearrangements in Thai Patients with Intellectual Disabilities Using FISH and Review of Literature on Subtelomeric FISH in 15,591 Cases with Intellectual Disabilities.

Authors:  Chariyawan Charalsawadi; Jariya Khayman; Verayuth Praphanphoj; Pornprot Limprasert
Journal:  Genet Res Int       Date:  2016-10-16

3.  3p22.1p21.31 microdeletion identifies CCK as Asperger syndrome candidate gene and shows the way for therapeutic strategies in chromosome imbalances.

Authors:  Ivan Y Iourov; Svetlana G Vorsanova; Victoria Y Voinova; Yuri B Yurov
Journal:  Mol Cytogenet       Date:  2015-10-31       Impact factor: 2.009
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.