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A Paternally Inherited Duplication in the Prader-Willi/ Angelman Syndrome Critical Region: A Case and Family Study

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Abstract

The Prader-Willi/Angelman Critical Region (PWACR; Chromosome 15q11–13) is of interest as a potential locus for genes conferring susceptibility to autism spectrum disorders (ASD). This report describes a female proband referred for evaluation of a possible ASD. Genetic analyses indicated that the proband, her father and one of her sisters, carried a paternally derived interstitial duplication involving 15q11–13. The proband showed evidence of ASD (PDD-NOS), borderline mental retardation, mild hypotonia and joint laxity. Her father and her sister were of normal intelligence and neither was thought to have an ASD, although speech/language difficulties and some autistic type behaviours were reported to have been present early in the development of the sister. This is one of the first reports of a child with a paternal duplication and an autism spectrum disorder. More research is required to determine whether paternally derived duplications that involve 15q11–13 are associated with developmental impairments.

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References

  • W. Adams D. Sheslow (1995) Wide range assessment of visual motor abilities Wide Range Inc Wilmington, DE

    Google Scholar 

  • S. K. Berument M. Rutter C. Lord A. Pickles A. Bailey (1999) ArticleTitleAutism screening questionnaire: Diagnostic validity The British Journal of Psychiatry 175 444–451

    Google Scholar 

  • P. Bolton H. Macdonald A. Pickles P. Rios S. Goode M. Crowson A. Bailey M. Rutter (1994) ArticleTitleA case–control family history study of autism Journal of Child Psychology and Psychiatry 35 877–900

    Google Scholar 

  • P. F. Bolton N. R. Dennis C. E. Browne N. S. Thomas M. W. M. Veltman R. J. Thompson P. Jacobs (2001) ArticleTitleThe phenotypic manifestations of interstitial duplications of proximal 15q, with special reference to the autism spectrum disorders American Journal of Medical Genetics (Neuropsychiatric Genetics) 105 675–685

    Google Scholar 

  • Bolton, P. F., Veltman, M. W. M., Gaitonde, E., Holmes, J., Thomas, N. S., Youings, S., Thompson, R. J., Roberts, S., Dennis, N., Browne, C., & Brown, J. Medical Conditions and Chromosome 15q11–13 Abnormalities in Individuals with Autism Spectrum Disorders. Psychiatric Genetics, in press

  • R. Borgatti P. Piccinelli D. Passoni L. Dalpra M. Miozzo R. Micheli C. Gagliardi U. Balottin (2001) ArticleTitleRelationship between clinical and genetic features in inverted duplicated chromosome 15 patients Pediatric Neurology 24 111–116

    Google Scholar 

  • C. E. Browne N. R. Dennis E. Maher F. L. Long J. C. Nicholson J. Silliborne J. C. K. Barber (1997) ArticleTitleInherited interstitial duplications of proximal 15q: Genotype–phenotype correlations American Journal of Human Genetics 61 1342–1352

    Google Scholar 

  • S. Bundey C. Hardy S. Vickers M. W. Kilpatrick J.A. Corbett (1994) ArticleTitleDuplication of the 15q11–13 region in a patient with autism, epilepsy and ataxia Developmental Medicine and Child Neurology 36 736–742

    Google Scholar 

  • E. H. Cook R. Y. Courchesne N. J. Cox C. Lord D. Gonen S. J. Guter A. Lincoln K. Nix R. Haas B. L. Leventhal E. Courchesne (1998) ArticleTitleLinakge–disequilibrium mapping of autistic disorder, with 15q11–13 markers American Journal of Human Genetics 62 1077–1083

    Google Scholar 

  • E. H. Cook V. Lindgren B. L. Leventhal R. Courchesne A. Lincoln C. Shulman C. Lord E. Courchesne (1997) ArticleTitleAutism Or atypical autism In maternally but not paternally derived proximal 15q duplication American Journal Of Human Genetics 60 928–934

    Google Scholar 

  • E. Fombonne (1999) ArticleTitleThe epidemiology of autism: A review Psychological Medicine 29 769–786

    Google Scholar 

  • E. Fombonne P. F. Bolton J. Prior H. Jordan M. Rutter (1997) ArticleTitleA family study of autism: Cognitive patterns and levels in parents and siblings Journal of Child Psychology and Psychiatry 38 667–683

    Google Scholar 

  • C. Gillberg S. Steffenburg J. Wahlstrom I. C. Gillberg A. Sjostedt T. Martinsson S. Liedgren O. Eeg-Olofsson (1991) ArticleTitleAutism associated with marker chromosome Journal of the American Academy of Child and Adolescent Psychiatry 30 489–494

    Google Scholar 

  • J. E. Harrison P. F. Bolton (1997) ArticleTitleAnnotation: Tuberous sclerosis Journal of Child Psychology and Psychiatry 38 603–614

    Google Scholar 

  • M. Hotopf P. F. Bolton (1995) ArticleTitleA case of autism associated with partial tetrasomy 15 Journal of Autism and Developmental Disorders 25 41–49

    Google Scholar 

  • C. Lord S. Risi L. Lambrecht E. H. Cook B. L. Leventhal P. DiLavore A. Pickles M. Rutter (2000) ArticleTitleThe Autism Diagnostic Observation Schedule—Generic Journal of Autism and Developmental Disorders 30 205–225

    Google Scholar 

  • C. Lord M. Rutter A. Le Couteur (1994) ArticleTitleAutism diagnostic interview-revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders Journal of Autism and Developmental Disorders 24 659–685

    Google Scholar 

  • T. K. Mohandas J. P. Park R. A. Spellman J. J. Filiano A. C. Mamourian A. B. Hawk D. R. Belloni W. W. Noll J. B. Moeschler (Feb 12 1999) ArticleTitlePaternally derived de novo interstitial duplication of proximal 15q in a patient with developmental delay American Journal Of Medical Genetics 82 IssueID4 294–300

    Google Scholar 

  • E. Mullen (1995) The mullen scales of early learning The American Guidance Service Circle pines, MN

    Google Scholar 

  • D. Pinkel T. Straume J. Gray (1988) ArticleTitleCytogenetic analysis using quantitative, high sensitivity. fluorescence hybridization Proceedings of the National Academy of Science USA 83 2934–2938

    Google Scholar 

  • G. M. Repetto L. M. White P. J. Bader D. Johnson J. H. M. Knoll (1998) ArticleTitleInterstitial duplications of chromosome region 15q11–q13: clinical and molecular characterisation American Journal of Medical Genetics 78 82–89

    Google Scholar 

  • S. Rineer B. Finucane E. W. Simon (1998) ArticleTitleAutistic symptoms among children and young adults with isodicentric chromosome 15 American Journal of Medical Genetics 81 428–33

    Google Scholar 

  • M. Rutter (2000) ArticleTitleGenetic studies of autism: From the 1970s into the Milenium Journal of Abnormal Child Psychology 28 3–14

    Google Scholar 

  • M. Rutter A. Bailey P. F. Bolton A. Le Couteur (1994) ArticleTitleAutism and known medical conditions: Myth and substance Journal of Child Psychology and Psychiatry 35 311–322

    Google Scholar 

  • R. J. Schroer M. C. Phelan R. C. Michaelis E. C. Crawford S. A. Skinner M. Cuccaro R. J. Simensen J. Bishop C. Skinner D. Fender R. E. Stevenson (1998) ArticleTitleAutism and maternally derived aberrations of chromosome 15q American Journal of Medical Genetics 76 327–336

    Google Scholar 

  • InstitutionalAuthorNameThe Psychological Corporation (1999) Wechsler abbreviated scale of intelligence Psychological Corp San Antonio, TX

    Google Scholar 

  • InstitutionalAuthorNameThe Psychological Corporation (2001) Wechsler individual achievement test Psychological Corp San Antonio, TX

    Google Scholar 

  • T. H. Wassink J. Piven (2000) ArticleTitleThe molecular genetics of autism Current Psychiatry Reports 2 170–175

    Google Scholar 

  • T. H. Wassink J. Piven S. R. Patil (2001) ArticleTitleChromosomal abnormalities in a clinic sample of individuals with autistic disorder Psychiatric Genetics 1 57–63

    Google Scholar 

  • M. Zeschnigk C. Lich K. Buiting W. Doerfler B. Horsthemke (1997) ArticleTitleA single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus European Journal of Human Genetics 5 94–98

    Google Scholar 

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Authors and Affiliations

  1. Developmental Psychiatry Section, University of Cambridge, Cambridge, UK

    Marijcke W. M. Veltman, Russell J. Thompson, Ellen E. Craig & Patrick F. Bolton

  2. Child and Adolescent Psychiatry, Institute of Psychiatry, University of London, UK

    Marijcke W. M. Veltman, Ellen E. Craig & Patrick F. Bolton

  3. MRC Social, Genetic and Developmental Psychiatry Research Centre, Institute of Psychiatry, University of London, UK

    Marijcke W. M. Veltman, Ellen E. Craig & Patrick F. Bolton

  4. Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK

    Nicholas R. Dennis

  5. Department of Human Genetics, University of Southampton, Southampton, UK

    Nicholas R. Dennis & Sian E. Roberts

  6. Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK

    Sian E. Roberts

  7. Paediatric Medical Unit, Southampton General Hospital, Southampton, UK

    Vanessa Moore & Josie A. Brown

  8. Developmental Psychiatry Section, University of Cambridge, CB2 2AH, 18b Douglas House, Trumpington Road, Cambridge, UK

    Marijcke W. M. Veltman

Authors
  1. Marijcke W. M. Veltman
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  2. Russell J. Thompson
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  3. Ellen E. Craig
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  4. Nicholas R. Dennis
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  5. Sian E. Roberts
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  6. Vanessa Moore
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  7. Josie A. Brown
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  8. Patrick F. Bolton
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Correspondence to Marijcke W. M. Veltman.

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Veltman, M.W.M., Thompson, R.J., Craig, E.E. et al. A Paternally Inherited Duplication in the Prader-Willi/ Angelman Syndrome Critical Region: A Case and Family Study. J Autism Dev Disord 35, 117–127 (2005). https://doi.org/10.1007/s10803-004-1039-1

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  • DOI: https://doi.org/10.1007/s10803-004-1039-1

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