Literature DB >> 10874638

Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes.

A Botta1, G Novelli, A Mari, A Novelli, M Sabani, J Korenberg, L R Osborne, M C Digilio, A Giannotti, B Dallapiccola.   

Abstract

We present two patients with the full Williams syndrome (WS) phenotype carrying a smaller deletion than typically observed. The deleted region spans from the elastin gene to marker D7S1870. This observation narrows the minimal region of deletion in WS and suggests that the syntaxin 1A and frizzled genes are not responsible for the major features of this developmental disorder and provides important insight into understanding the genotype-phenotype correlation in WS.

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Year:  1999        PMID： 10874638      PMCID： PMC1734394     

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  27 in total

1.  A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

Authors:  L R Osborne; M Li; B Pober; D Chitayat; J Bodurtha; A Mandel; T Costa; T Grebe; S Cox; L C Tsui; S W Scherer
Journal:  Nat Genet       Date:  2001-11       Impact factor: 38.330

2.  Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes.

Authors:  Giuseppe Merla; Cédric Howald; Charlotte N Henrichsen; Robert Lyle; Carine Wyss; Marie-Thérèse Zabot; Stylianos E Antonarakis; Alexandre Reymond
Journal:  Am J Hum Genet       Date:  2006-06-23       Impact factor: 11.025

3.  Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions.

Authors:  C Howald; G Merla; M C Digilio; S Amenta; R Lyle; S Deutsch; U Choudhury; A Bottani; S E Antonarakis; H Fryssira; B Dallapiccola; A Reymond
Journal:  J Med Genet       Date:  2005-07-01       Impact factor: 6.318

Review 4.  Copy number variants at Williams-Beuren syndrome 7q11.23 region.

Authors:  Giuseppe Merla; Nicola Brunetti-Pierri; Lucia Micale; Carmela Fusco
Journal:  Hum Genet       Date:  2010-05-01       Impact factor: 4.132

Review 5.  Animal models of Williams syndrome.

Authors:  Lucy R Osborne
Journal:  Am J Med Genet C Semin Med Genet       Date:  2010-05-15       Impact factor: 3.908

6.  Autism, language delay and mental retardation in a patient with 7q11 duplication.

Authors:  C Depienne; D Heron; C Betancur; B Benyahia; O Trouillard; D Bouteiller; A Verloes; E Leguern; M Leboyer; A Brice
Journal:  BMJ Case Rep       Date:  2009-06-18

7.  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

8.  Intelligence in Williams Syndrome is related to STX1A, which encodes a component of the presynaptic SNARE complex.

Authors:  Michael C Gao; Ursula Bellugi; Li Dai; Debra L Mills; Eric M Sobel; Kenneth Lange; Julie R Korenberg
Journal:  PLoS One       Date:  2010-04-21       Impact factor: 3.240

Review 9.  CNV and nervous system diseases--what's new?

Authors:  W Gu; J R Lupski
Journal:  Cytogenet Genome Res       Date:  2009-03-11       Impact factor: 1.636

Review 10.  Defining the social phenotype in Williams syndrome: a model for linking gene, the brain, and behavior.

Authors:  Anna Järvinen-Pasley; Ursula Bellugi; Judy Reilly; Debra L Mills; Albert Galaburda; Allan L Reiss; Julie R Korenberg
Journal:  Dev Psychopathol       Date:  2008
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