Literature DB >> 16236740

Severe expressive-language delay related to duplication of the Williams-Beuren locus.

Martin J Somerville1, Carolyn B Mervis, Edwin J Young, Eul-Ju Seo, Miguel del Campo, Stephen Bamforth, Ella Peregrine, Wayne Loo, Margaret Lilley, Luis A Pérez-Jurado, Colleen A Morris, Stephen W Scherer, Lucy R Osborne.   

Abstract

The Williams-Beuren syndrome (WBS) locus, at 7q11.23, is prone to recurrent chromosomal rearrangements, including the microdeletion that causes WBS, a multisystem condition with characteristic cardiovascular, cognitive, and behavioral features. It is hypothesized that reciprocal duplications of the WBS interval should also occur, and here we present such a case description. The most striking phenotype was a severe delay in expressive speech, in contrast to the normal articulation and fluent expressive language observed in persons with WBS. Our results suggest that specific genes at 7q11.23 are exquisitely sensitive to dosage alterations that can influence human language and visuospatial capabilities. Copyright 2005 Massachusetts Medical Society.

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Year:  2005        PMID： 16236740      PMCID： PMC2893213          DOI： 10.1056/NEJMoa051962

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


  17 in total

1.  Molecular cytogenetic characterization of a small, familial supernumerary ring chromosome 7 associated with mental retardation and an abnormal phenotype.

Authors:  G Tan-Sindhunata; S Castedo; B Leegte; I Mulder; A Y vd Veen; A H vd Hout; T J Wiersma; A J van Essen
Journal:  Am J Med Genet       Date:  2000-05-15

Review 2.  Supernumerary ring chromosome 7 mosaicism: case report, investigation of the gene content, and delineation of the phenotype.

Authors:  K D Lichtenbelt; R Hochstenbach; W M van Dam; M J Eleveld; M Poot; F A Beemer
Journal:  Am J Med Genet A       Date:  2005-01-01       Impact factor: 2.802

3.  Mutational mechanisms of Williams-Beuren syndrome deletions.

Authors:  Mònica Bayés; Luis F Magano; Núria Rivera; Raquel Flores; Luis A Pérez Jurado
Journal:  Am J Hum Genet       Date:  2003-06-09       Impact factor: 11.025

4.  Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits.

Authors:  Kay D MacDermot; Elena Bonora; Nuala Sykes; Anne-Marie Coupe; Cecilia S L Lai; Sonja C Vernes; Faraneh Vargha-Khadem; Fiona McKenzie; Robert L Smith; Anthony P Monaco; Simon E Fisher
Journal:  Am J Hum Genet       Date:  2005-04-22       Impact factor: 11.025

5.  Comparison of TFII-I gene family members deleted in Williams-Beuren syndrome.

Authors:  Timothy A Hinsley; Pamela Cunliffe; Hannah J Tipney; Andrew Brass; May Tassabehji
Journal:  Protein Sci       Date:  2004-10       Impact factor: 6.725

Review 6.  Clinical findings and cytogenetic analysis of small supernumerary ring chromosomes 7: report of two new cases.

Authors:  Sandra Chantot-Bastaraud; Christine Muti; Eva Pipiras; Marie Claude Routon; Anne Roubergue; Lydie Burglen; Jean Pierre Siffroi; Brigitte Simon-Bouy
Journal:  Ann Genet       Date:  2004 Jul-Sep

7.  GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region.

Authors:  Colleen A Morris; Carolyn B Mervis; Holly H Hobart; Ronald G Gregg; Jacquelyn Bertrand; Gregory J Ensing; Annemarie Sommer; Cynthia A Moore; Robert J Hopkin; Patricia A Spallone; Mark T Keating; Lucy Osborne; Kendra W Kimberley; A Dean Stock
Journal:  Am J Med Genet A       Date:  2003-11-15       Impact factor: 2.802

8.  Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease.

Authors:  Jesse Christiansen; John D Dyck; Basil G Elyas; Margaret Lilley; J Stephen Bamforth; Mark Hicks; Kathleen A Sprysak; Robert Tomaszewski; Shelagh M Haase; Leanne M Vicen-Wyhony; Martin J Somerville
Journal:  Circ Res       Date:  2004-04-29       Impact factor: 17.367

Review 9.  Deciphering the genetic basis of speech and language disorders.

Authors:  Simon E Fisher; Cecilia S L Lai; Anthony P Monaco
Journal:  Annu Rev Neurosci       Date:  2003-01-08       Impact factor: 12.449

Review 10.  Williams-Beuren syndrome: a challenge for genotype-phenotype correlations.

Authors:  M Tassabehji
Journal:  Hum Mol Genet       Date:  2003-09-02       Impact factor: 6.150
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  109 in total

1.  Severe intellectual disability and autistic features associated with microduplication 2q23.1.

Authors:  Brian H Y Chung; Sureni Mullegama; Christian R Marshall; Anath C Lionel; Rosanna Weksberg; Lucie Dupuis; Lauren Brick; Chumei Li; Stephen W Scherer; Swaroop Aradhya; D James Stavropoulos; Sarah H Elsea; Roberto Mendoza-Londono
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Journal:  Hum Mutat       Date:  2011-11-02       Impact factor: 4.878

Review 3.  Meiotic Recombination: The Essence of Heredity.

Authors:  Neil Hunter
Journal:  Cold Spring Harb Perspect Biol       Date:  2015-10-28       Impact factor: 10.005

4.  Setleis syndrome due to inheritance of the 1p36.22p36.21 duplication: evidence for lack of penetrance.

Authors:  Beom Hee Lee; Christos Kasparis; Brenden Chen; Hui Mei; Lisa Edelmann; Celia Moss; David D Weaver; Robert J Desnick
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5.  The nuclear localization pattern and interaction partners of GTF2IRD1 demonstrate a role in chromatin regulation.

Authors:  Paulina Carmona-Mora; Jocelyn Widagdo; Florence Tomasetig; Cesar P Canales; Yeojoon Cha; Wei Lee; Abdullah Alshawaf; Mirella Dottori; Renee M Whan; Edna C Hardeman; Stephen J Palmer
Journal:  Hum Genet       Date:  2015-08-15       Impact factor: 4.132

6.  Substrain differences reveal novel disease-modifying gene candidates that alter the clinical course of a rodent model of multiple sclerosis.

Authors:  Leslie E Summers deLuca; Natalia B Pikor; Jennifer O'Leary; Georgina Galicia-Rosas; Lesley A Ward; Dustin Defreitas; Trisha M Finlay; Shalina S Ousman; Lucy R Osborne; Jennifer L Gommerman
Journal:  J Immunol       Date:  2010-02-19       Impact factor: 5.422

7.  An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism.

Authors:  Lisa Edelmann; Aaron Prosnitz; Sherly Pardo; Jahnavi Bhatt; Ninette Cohen; Tara Lauriat; Leonid Ouchanov; Patricia J González; Elina R Manghi; Pamela Bondy; Marcela Esquivel; Silvia Monge; Marietha F Delgado; Alessandra Splendore; Uta Francke; Barbara K Burton; L Alison McInnes
Journal:  J Med Genet       Date:  2006-09-13       Impact factor: 6.318

8.  Contribution of SHANK3 mutations to autism spectrum disorder.

Authors:  Rainald Moessner; Christian R Marshall; James S Sutcliffe; Jennifer Skaug; Dalila Pinto; John Vincent; Lonnie Zwaigenbaum; Bridget Fernandez; Wendy Roberts; Peter Szatmari; Stephen W Scherer
Journal:  Am J Hum Genet       Date:  2007-10-16       Impact factor: 11.025

Review 9.  Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome.

Authors:  Barbara R Pober; Mark Johnson; Zsolt Urban
Journal:  J Clin Invest       Date:  2008-05       Impact factor: 14.808

10.  Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.

Authors:  Lina Shao; Chad A Shaw; Xin-Yan Lu; Trilochan Sahoo; Carlos A Bacino; Seema R Lalani; Pawel Stankiewicz; Svetlana A Yatsenko; Yinfeng Li; Sarah Neill; Amber N Pursley; A Craig Chinault; Ankita Patel; Arthur L Beaudet; James R Lupski; Sau W Cheung
Journal:  Am J Med Genet A       Date:  2008-09-01       Impact factor: 2.802
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