Access the full text.
Sign up today, get DeepDyve free for 14 days.
Amber Hogart, Katherine Patzel, J. LaSalle (2008)
Gender influences monoallelic expression of ATP10A in human brainHuman Genetics, 124
Amber Hogart, David Wu, J. LaSalle, N. Schanen (2010)
The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13Neurobiology of Disease, 38
T. Browne, J. Penry (1973)
Benzodiazepines in the Treatment of Epilepsy A ReviewEpilepsia, 14
K. Buiting (2010)
Prader–Willi syndrome and Angelman syndromeAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, 154C
E. Nurmi, Y. Bradford, Y. Chen, J. Hall, Brenda Arnone, M. Gardiner, H. Hutcheson, J. Gilbert, M. Pericak-Vance, S. Copeland-Yates, R. Michaelis, T. Wassink, S. Santangelo, V. Sheffield, J. Piven, S. Folstein, J. Haines, J. Sutcliffe (2001)
Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families.Genomics, 77 1-2
D. Moreno-De-Luca, Stephan Sanders, A. Willsey, J. Mulle, J. Lowe, D. Geschwind, M. State, C. Martin, D. Ledbetter (2012)
Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohortsMolecular Psychiatry, 18
B. O’Roak, P. Deriziotis, Choli Lee, Laura Vives, Jerrod Schwartz, S. Girirajan, E. Karakoç, Alexandra MacKenzie, Sarah Ng, Carl Baker, M. Rieder, D. Nickerson, R. Bernier, S. Fisher, J. Shendure, E. Eichler (2011)
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutationsNature genetics, 43
C. Browne, N. Dennis, Eamonn Maher, F. Long, J. Nicholson, J. Sillibourne, J. Barber (1997)
Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.American journal of human genetics, 61 6
L. Herzing, Soojeong Kim, Edwin Cook, David Ledbetter (2001)
The human aminophospholipid-transporting ATPase gene ATP10C maps adjacent to UBE3A and exhibits similar imprinted expression.American journal of human genetics, 68 6
S. Roberts, N. Dennis, C. Browne, L. Willatt, G. Woods, I. Cross, P. Jacobs, S. Thomas (2002)
Characterisation of interstitial duplications and triplications of chromosome 15q11–q13Human Genetics, 110
Cassidy Cassidy (1997)
Prader‐Willi syndromeJournal of Medical Genetics, 34
J. Fantes, S. Mewborn, C. Lese, J. Hedrick, R. Brown, V. Dyomin, R. Chaganti, S. Christian, D. Ledbetter (2002)
Organisation of the pericentromeric region of chromosome 15: at least four partial gene copies are amplified in patients with a proximal duplication of 15qJournal of Medical Genetics, 39
P. Stankiewicz, J. Lupski (2010)
Structural variation in the human genome and its role in disease.Annual review of medicine, 61
P. Krakowiak, B. Goodlin‐Jones, I. Hertz-Picciotto, L. Croen, R. Hansen (2008)
Sleep problems in children with autism spectrum disorders, developmental delays, and typical development: a population‐based studyJournal of Sleep Research, 17
R. Hu (2003)
Diagnostic and Statistical Manual of Mental Disorders (DSM-IV)
N. Urraca, L. Davis, E. Cook, N. Schanen, L. Reiter (2010)
A single-tube quantitative high-resolution melting curve method for parent-of-origin determination of 15q duplications.Genetic testing and molecular biomarkers, 14 4
Suzanne Cassidy, Stuart Schwartz, Jennifer Miller, Daniel Driscoll (1989)
Prader-Willi syndromeGenetics in Medicine, 14
J. Clayton-Smith, Tessa Webb, X.-J. Cheng, M. Pembrey, Sue Malcolm (1993)
Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome.Journal of Medical Genetics, 30
P. Bolton, N. Dennis, C. Browne, N. Thomas, M. Veltman, R. Thompson, P. Jacobs (2001)
The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders.American journal of medical genetics, 105 8
B. Malow, C. Crowe, Lynnette Henderson, S. McGrew, Lily Wang, Yanna Song, W. Stone (2009)
A Sleep Habits Questionnaire for Children With Autism Spectrum DisordersJournal of Child Neurology, 24
C. Depienne, D. Moreno-De-Luca, D. Heron, D. Bouteiller, Aurélie Gennetier, R. Delorme, P. Chaste, J. Siffroi, S. Chantot-Bastaraud, B. Benyahia, Oriane Trouillard, G. Nygren, S. Kopp, Maria Johansson, M. Råstam, L. Burglen, E. Leguern, A. Verloes, M. Leboyer, A. Brice, C. Gillberg, C. Betancur (2009)
Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum DisordersBiological Psychiatry, 66
(2008)
Orphanet Journal of Rare Diseases BioMed Central Review The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)
U. Rudolph, F. Crestani, D. Benke, I. Brünig, J. Benson, J. Fritschy, James Martin, H. Bluethmann, H. Möhler (1999)
Benzodiazepine actions mediated by specific γ-aminobutyric acidA receptor subtypesNature, 401
Amanda Dubose, K. Johnstone, Emily Smith, Ryan Hallett, J. Resnick (2010)
Atp10a, a gene adjacent to the PWS/AS gene cluster, is not imprinted in mouse and is insensitive to the PWS-ICneurogenetics, 11
G. Guffanti, L. Lievers, M. Bonati, M. Marchi, Lupo Geronazzo, N. Nardocci, M. Estienne, L. Larizza, F. Macciardi, S. Russo (2011)
Role of UBE3A and ATP10A genes in autism susceptibility region 15q11-q13 in an Italian population: A positive replication for UBE3APsychiatry Research, 185
J. Veenstra-VanderWeele, S. Christian, E. Cook (2004)
Autism as a paradigmatic complex genetic disorder.Annual review of genomics and human genetics, 5
M. Halleck, Joseph Lawler, Seth Blackshaw, Ling Gao, Priya Nagarajan, Coleen Hacker, Scott Pyle, Jason Newman, Y. Nakanishi, Hiroshi Ando, Daniel Weinstock, Patrick Williamson, Robert Schlegel (1999)
Differential expression of putative transbilayer amphipath transporters.Physiological genomics, 1 3
J. Miles (2011)
Autism spectrum disorders—A genetics reviewGenetics in Medicine, 13
Amber Hogart, R. Nagarajan, Katherine Patzel, D. Yasui, J. LaSalle (2007)
15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders.Human molecular genetics, 16 6
A. Vaags, A. Lionel, Daisuke Sato, McKinsey Goodenberger, Q. Stein, S. Curran, C. Ogilvie, J. Ahn, Irene Drmic, Lili Senman, Christina Chrysler, A. Thompson, C. Russell, Aparna Prasad, S. Walker, D. Pinto, C. Marshall, D. Stavropoulos, L. Zwaigenbaum, B. Fernandez, E. Fombonne, P. Bolton, D. Collier, Jennelle Hodge, W. Roberts, P. Szatmari, S. Scherer (2012)
Rare deletions at the neurexin 3 locus in autism spectrum disorder.American journal of human genetics, 90 1
D. Cohen, Claire Martel, Anna Wilson, Nicole Déchambre, Céline Amy, L. Duverger, J. Guilé, E. Pipiras, B. Benzacken, H. Cavé, L. Cohen, D. Heron, M. Plaza (2007)
Brief Report: Visual-Spatial Deficit in a 16-year-old Girl with Maternally Derived Duplication of Proximal 15qJournal of Autism and Developmental Disorders, 37
A. Battaglia (2005)
The inv dup(15) or idic(15) syndrome: A clinically recognisable neurogenetic disorderBrain and Development, 27
E. Cook, Rachel Courchesne, N. Cox, Catherine Lord, D. Gonen, Stephen Guter, A. Lincoln, Kristie Nix, R. Haas, Bennett Leventhal, E. Courchesne, E. Courchesne (1998)
Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers.American journal of human genetics, 62 5
U. Rudolph, F. Crestani, D. Benke, I. Brünig, J. Benson, J. Fritschy, J. Martin, H. Bluethmann, H. Möhler (1999)
Benzodiazepine actions mediated by specific gamma-aminobutyric acid(A) receptor subtypes.Nature, 401 6755
C. Lord, M. Rutter, A. Couteur (1994)
Autism Diagnostic Interview-Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disordersJournal of Autism and Developmental Disorders, 24
Battaglia Battaglia (2008)
The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)Orphanet Journal of Rare Diseases, 3
Haley Scoles, N. Urraca, Samuel Chadwick, L. Reiter, J. LaSalle (2011)
Increased copy number for methylated maternal 15q duplications leads to changes in gene and protein expression in human cortical samplesMolecular Autism, 2
P. Szafranski, C. Schaaf, R. Person, Ian Gibson, Z. Xia, S. Mahadevan, Joanna Wiszniewska, C. Bacino, S. Lalani, L. Potocki, Sung-Hae Kang, Ankita Patel, S. Cheung, F. Probst, B. Graham, M. Shinawi, A. Beaudet, P. Stankiewicz (2010)
Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?Human Mutation, 31
M. Veltman, Russell Thompson, Ellen Craig, N. Dennis, S. Roberts, V. Moore, Josie Brown, P. Bolton (2005)
A Paternally Inherited Duplication in the Prader-Willi/ Angelman Syndrome Critical Region: A Case and Family StudyJournal of Autism and Developmental Disorders, 35
T. Mohandas, Jonathan Park, R. Spellman, J. Filiano, A. Mamourian, A. Hawk, Dorothy Belloni, W. Noll, J. Moeschler (1999)
Paternally derived de novo interstitial duplication of proximal 15q in a patient with developmental delay.American journal of medical genetics, 82 4
R. Mao, S. Jalal, K. Snow, V. Michels, S. Szabo, D. Babovic‐Vuksanovic (2000)
Characteristics of two cases with dup(15) (q 11.2-q 12): one of maternal and one of paternal originGenetics in Medicine, 2
E. Cook, V. Lindgren, Bennett Leventhal, Rachel Courchesne, A. Lincoln, C. Shulman, C. Lord, E. Courchesne, E. Courchesne (1997)
Autism or atypical autism in maternally but not paternally derived proximal 15q duplication.American journal of human genetics, 60 4
A. Orrico, M. Zollino, L. Galli, S. Buoni, G. Marangi, V. Sorrentino (2009)
Late‐onset Lennox–Gastaut syndrome in a patient with 15q11.2–q13.1 duplicationAmerican Journal of Medical Genetics Part A, 149A
S. Sparrow, D. Cicchetti (1985)
Diagnostic uses of the Vineland Adaptive Behavior Scales.Journal of pediatric psychology, 10 2
Stephan Sanders, M. Murtha, Abha Gupta, John Murdoch, Melanie Raubeson, A. Willsey, A. Ercan-Sencicek, Nicholas DiLullo, N. Parikshak, J. Stein, Michael Walker, Gordon Ober, Nicole Teran, Youeun Song, Paul El-Fishawy, Ryan Murtha, Murim Choi, J. Overton, R. Bjornson, N. Carriero, Kyle Meyer, K. Bilguvar, S. Mane, N. Šestan, R. Lifton, Murat Günel, K. Roeder, D. Geschwind, B. Devlin, M. State (2012)
De novo mutations revealed by whole-exome sequencing are strongly associated with autismNature, 485
J. Couturier, K. Speechley, M. Steele, R. Norman, B. Stringer, R. Nicolson (2005)
Parental perception of sleep problems in children of normal intelligence with pervasive developmental disorders: prevalence, severity, and pattern.Journal of the American Academy of Child and Adolescent Psychiatry, 44 8
J. Baio (2012)
Prevalence of autism spectrum disorders - Autism and Developmental Disabilities Monitoring Network, 14 sites, United States, 2008
K. Gotham, A. Pickles, C. Lord (2009)
Standardizing ADOS Scores for a Measure of Severity in Autism Spectrum DisordersJournal of Autism and Developmental Disorders, 39
Jonathan Campbell, Aila Dommestrup (2010)
Peabody Picture Vocabulary Test
U. Rudolph, F. Knoflach (2011)
Beyond classical benzodiazepines: novel therapeutic potential of GABAA receptor subtypesNature Reviews Drug Discovery, 10
J. Owens, A. Spirito, M. McGuinn (2000)
The Children's Sleep Habits Questionnaire (CSHQ): psychometric properties of a survey instrument for school-aged children.Sleep, 23 8
K. Nakken, E. Rytter, F. Brockmeier (2010)
[Benzodiazepines in the treatment of epilepsy].Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke, 130 8
Sarah Stephens, J. Logel, A. Barton, Alexis Franks, J. Schultz, M. Short, Jane Dickenson, Benjamin James, T. Fingerlin, B. Wagner, C. Hodgkinson, S. Graw, R. Ross, R. Freedman, S. Leonard (2009)
Association of the 5′-upstream regulatory region of the α7 nicotinic acetylcholine receptor subunit gene (CHRNA7) with schizophreniaSchizophrenia Research, 109
S. Dindot, B. Antalffy, M. Bhattacharjee, A. Beaudet (2007)
The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology.Human molecular genetics, 17 1
(1989)
Autism diagnostic observation schedule: A standardized observation of communicative and social behavior
S. Peters, Lucia Horowitz, R. Barbieri-Welge, J. Taylor, R. Hundley (2012)
Longitudinal follow-up of autism spectrum features and sensory behaviors in Angelman syndrome by deletion class.Journal of child psychology and psychiatry, and allied disciplines, 53 2
P. Bolton, M. Veltman, E. Weisblatt, J. Holmes, N. Thomas, S. Youings, Russell Thompson, S. Roberts, N. Dennis, C. Browne, Sally Goodson, V. Moore, Josie Brown (2004)
Chromosome 15q11-13 abnormalities and other medical conditions in individuals with autism spectrum disordersPsychiatric Genetics, 14
B. Devlin, S. Scherer (2012)
Genetic architecture in autism spectrum disorder.Current opinion in genetics & development, 22 3
J. Vorstman, W. Staal, E. Daalen, H. Engeland, P. Hochstenbach, L. Franke (2006)
Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autismMolecular Psychiatry, 11
B. O’Roak, Laura Vives, S. Girirajan, E. Karakoç, Niklas Krumm, Bradley Coe, Roie Levy, Arthur Ko, Choli Lee, Joshua Smith, Emily Turner, I. Stanaway, Benjamin Vernot, M. Malig, Carl Baker, Beau Reilly, J. Akey, Elhanan Borenstein, M. Rieder, D. Nickerson, R. Bernier, J. Shendure, E. Eichler (2012)
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutationsNature, 485
C. Marshall, S. Scherer (2012)
Detection and characterization of copy number variation in autism spectrum disorder.Methods in molecular biology, 838
Janet Williams (2013)
Diagnostic and Statistical Manual of Mental Disorders
Veltman Veltman, Thompson Thompson, Craig Craig, Dennis Dennis, Roberts Roberts (2005)
A paternally inherited duplication in the Prader‐Willi/Angelman syndrome critical region: A case and family studyJournal of Autism and Developmental Disorders, 35
Chromosomal copy number variants (CNV) are the most common genetic lesion found in autism. Many autism‐associated CNVs are duplications of chromosome 15q. Although most cases of interstitial (int) dup(15) that present clinically are de novo and maternally derived or inherited, both pathogenic and unaffected paternal duplications of 15q have been identified. We performed a phenotype/genotype analysis of individuals with interstitial 15q duplications to broaden our understanding of the 15q syndrome and investigate the contribution of 15q duplication to increased autism risk. All subjects were recruited solely on the basis of interstitial duplication 15q11.2‐q13 status. Comparative array genome hybridization was used to determine the duplication size and boundaries while the methylation status of the maternally methylated small nuclear ribonucleoprotein polypeptide N gene was used to determine the parent of origin of the duplication. We determined the duplication size and parental origin for 14 int dup(15) subjects: 10 maternal and 4 paternal cases. The majority of int dup(15) cases recruited were maternal in origin, most likely due to our finding that maternal duplication was coincident with autism spectrum disorder. The size of the duplication did not correlate with the severity of the phenotype as established by Autism Diagnostic Observation Scale calibrated severity score. We identified phenotypes not comprehensively described before in this cohort including mild facial dysmorphism, sleep problems and an unusual electroencephalogram variant. Our results are consistent with the hypothesis that the maternally expressed ubiquitin protein ligase E3A gene is primarily responsible for the autism phenotype in int dup(15) since all maternal cases tested presented on the autism spectrum. Autism Res 2013, ●●: ●●–●●. © 2013 International Society for Autism Research, Wiley Periodicals, Inc.
Autism Research – Wiley
Published: Aug 1, 2013
Read and print from thousands of top scholarly journals.
Already have an account? Log in
Bookmark this article. You can see your Bookmarks on your DeepDyve Library.
To save an article, log in first, or sign up for a DeepDyve account if you don’t already have one.
Copy and paste the desired citation format or use the link below to download a file formatted for EndNote
Access the full text.
Sign up today, get DeepDyve free for 14 days.
All DeepDyve websites use cookies to improve your online experience. They were placed on your computer when you launched this website. You can change your cookie settings through your browser.