Investigation of NRXN1 deletions: Clinical and molecular characterization
dc.contributor.author | Dabell, Mindy Preston | en_US |
dc.contributor.author | Rosenfeld, Jill A. | en_US |
dc.contributor.author | Bader, Patricia | en_US |
dc.contributor.author | Escobar, Luis F. | en_US |
dc.contributor.author | El‐khechen, Dima | en_US |
dc.contributor.author | Vallee, Stephanie E. | en_US |
dc.contributor.author | Dinulos, Mary Beth Palko | en_US |
dc.contributor.author | Curry, Cynthia | en_US |
dc.contributor.author | Fisher, Jamie | en_US |
dc.contributor.author | Tervo, Raymond | en_US |
dc.contributor.author | Hannibal, Mark C. | en_US |
dc.contributor.author | Siefkas, Kiana | en_US |
dc.contributor.author | Wyatt, Philip R. | en_US |
dc.contributor.author | Hughes, Lauren | en_US |
dc.contributor.author | Smith, Rosemarie | en_US |
dc.contributor.author | Ellingwood, Sara | en_US |
dc.contributor.author | Lacassie, Yves | en_US |
dc.contributor.author | Stroud, Tracy | en_US |
dc.contributor.author | Farrell, Sandra A. | en_US |
dc.contributor.author | Sanchez‐lara, Pedro A. | en_US |
dc.contributor.author | Randolph, Linda M. | en_US |
dc.contributor.author | Niyazov, Dmitriy | en_US |
dc.contributor.author | Stevens, Cathy A. | en_US |
dc.contributor.author | Schoonveld, Cheri | en_US |
dc.contributor.author | Skidmore, David | en_US |
dc.contributor.author | MacKay, Sara | en_US |
dc.contributor.author | Miles, Judith H. | en_US |
dc.contributor.author | Moodley, Manikum | en_US |
dc.contributor.author | Huillet, Adam | en_US |
dc.contributor.author | Neill, Nicholas J. | en_US |
dc.contributor.author | Ellison, Jay W. | en_US |
dc.contributor.author | Ballif, Blake C. | en_US |
dc.contributor.author | Shaffer, Lisa G. | en_US |
dc.date.accessioned | 2013-04-08T20:49:50Z | |
dc.date.available | 2014-05-23T15:04:19Z | en_US |
dc.date.issued | 2013-04 | en_US |
dc.identifier.citation | Dabell, Mindy Preston; Rosenfeld, Jill A.; Bader, Patricia; Escobar, Luis F.; El‐khechen, Dima ; Vallee, Stephanie E.; Dinulos, Mary Beth Palko; Curry, Cynthia; Fisher, Jamie; Tervo, Raymond; Hannibal, Mark C.; Siefkas, Kiana; Wyatt, Philip R.; Hughes, Lauren; Smith, Rosemarie; Ellingwood, Sara; Lacassie, Yves; Stroud, Tracy; Farrell, Sandra A.; Sanchez‐lara, Pedro A. ; Randolph, Linda M.; Niyazov, Dmitriy; Stevens, Cathy A.; Schoonveld, Cheri; Skidmore, David; MacKay, Sara; Miles, Judith H.; Moodley, Manikum; Huillet, Adam; Neill, Nicholas J.; Ellison, Jay W.; Ballif, Blake C.; Shaffer, Lisa G. (2013). "Investigation of NRXN1 deletions: Clinical and molecular characterization ." American Journal of Medical Genetics Part A 161(4): 717-731. <http://hdl.handle.net/2027.42/97220> | en_US |
dc.identifier.issn | 1552-4825 | en_US |
dc.identifier.issn | 1552-4833 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/97220 | |
dc.description.abstract | Deletions at 2p16.3 involving exons of NRXN1 are associated with susceptibility for autism and schizophrenia, and similar deletions have been identified in individuals with developmental delay and dysmorphic features. We have identified 34 probands with exonic NRXN1 deletions following referral for clinical microarray‐based comparative genomic hybridization. To more firmly establish the full phenotypic spectrum associated with exonic NRXN1 deletions, we report the clinical features of 27 individuals with NRXN1 deletions, who represent 23 of these 34 families. The frequency of exonic NRXN1 deletions among our postnatally diagnosed patients (0.11%) is significantly higher than the frequency among reported controls (0.02%; P = 6.08 × 10 −7 ), supporting a role for these deletions in the development of abnormal phenotypes. Generally, most individuals with NRXN1 exonic deletions have developmental delay (particularly speech), abnormal behaviors, and mild dysmorphic features. In our cohort, autism spectrum disorders were diagnosed in 43% (10/23), and 16% (4/25) had epilepsy. The presence of NRXN1 deletions in normal parents and siblings suggests reduced penetrance and/or variable expressivity, which may be influenced by genetic, environmental, and/or stochastic factors. The pathogenicity of these deletions may also be affected by the location of the deletion within the gene. Counseling should appropriately represent this spectrum of possibilities when discussing recurrence risks or expectations for a child found to have a deletion in NRXN1 . © 2013 Wiley Periodicals, Inc. | en_US |
dc.publisher | Wiley Subscription Services, Inc., A Wiley Company | en_US |
dc.subject.other | Autism | en_US |
dc.subject.other | Dysmorphic | en_US |
dc.subject.other | Schizophrenia | en_US |
dc.subject.other | Microarray | en_US |
dc.subject.other | Developmental Delay | en_US |
dc.subject.other | 2p16.3 | en_US |
dc.subject.other | Neurexin 1 | en_US |
dc.title | Investigation of NRXN1 deletions: Clinical and molecular characterization | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Genetics | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | University of Michigan, Ann Arbor, MI. Nicholas J. Neill's present address is Baylor College of Medicine, Houston, TX. | en_US |
dc.contributor.affiliationother | 33 Genetic Veterinary Sciences, Inc., Spokane, WA. | en_US |
dc.contributor.affiliationother | Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, Washington | en_US |
dc.contributor.affiliationother | Northeast Indiana Genetic Counseling Center, Fort Wayne, Indiana | en_US |
dc.contributor.affiliationother | Medical Genetics and Neurodevelopmental Center, Peyton Manning Children's Hospital at St. Vincent, Indianapolis, Indiana | en_US |
dc.contributor.affiliationother | Department of Pediatrics, Section of Medical Genetics, The Geisel School of Medicine at Dartmouth, Dartmouth‐Hitchcock Medical Center, Lebanon, New Hampshire | en_US |
dc.contributor.affiliationother | Genetic Medicine of Central California, Fresno, California | en_US |
dc.contributor.affiliationother | Gillette Children's Specialty Healthcare, St. Paul, Minnesota | en_US |
dc.contributor.affiliationother | Division of Medical Genetics, University of Washington School of Medicine, Seattle, Washington | en_US |
dc.contributor.affiliationother | Children's Village and Yakima Valley Memorial Hospital, Yakima, Washington | en_US |
dc.contributor.affiliationother | Orillia Soldiers' Memorial Hospital, Orillia, Ontario, Canada | en_US |
dc.contributor.affiliationother | Division of Genetics, Maine Medical Center, Portland, Maine | en_US |
dc.contributor.affiliationother | Department of Pediatrics, Louisiana State University Health Sciences Center and Children's Hospital, New Orleans, Louisiana | en_US |
dc.contributor.affiliationother | Columbia Women's & Children's Hospital, University of Missouri, Columbia, Missouri | en_US |
dc.contributor.affiliationother | The Credit Valley Hospital, Mississauga, Ontario, Canada | en_US |
dc.contributor.affiliationother | Children's Hospital Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, California | en_US |
dc.contributor.affiliationother | Ochsner Children's Health Center, New Orleans, Louisiana | en_US |
dc.contributor.affiliationother | Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee | en_US |
dc.contributor.affiliationother | University of Minnesota Medical Center, Fairview, Minneapolis, Minnesota | en_US |
dc.contributor.affiliationother | Maritime Medical Genetics Service, IWK Health Centre, Halifax, Nova Scotia, Canada | en_US |
dc.contributor.affiliationother | Thompson Center for Autism and Neurodevelopmental Disorders, University of Missouri, Columbia, Missouri | en_US |
dc.contributor.affiliationother | Center for Pediatric Neurology, Cleveland Clinic, Cleveland, Ohio | en_US |
dc.contributor.affiliationother | Developmental and Behavioral Pediatrics, Madigan Army Medical Center, Fort Lewis, Washington | en_US |
dc.contributor.affiliationother | Genetic Veterinary Sciences, Inc. 850 E Spokane Falls Blvd., Spokane, WA 99202. | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/97220/1/35780_ftp.pdf | |
dc.identifier.doi | 10.1002/ajmg.a.35780 | en_US |
dc.identifier.source | American Journal of Medical Genetics Part A | en_US |
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dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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