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

被引：220

作者：

Somerville, MJ

Mervis, CB

Young, EJ

Seo, EJ

del Campo, M

Bamforth, S

Peregrine, E

Loo, W

Lilley, M

Perez-Jurado, LA

Morris, CA

Scherer, SW

Osborne, LR

机构：

[1] Univ Toronto, Inst Med Sci, Toronto, ON M5S 1A8, Canada

[2] Univ Alberta, Dept Med Genet, Edmonton, AB, Canada

[3] Univ Louisville, Dept Psychol & Brain Sci, Louisville, KY 40292 USA

[4] Univ Toronto, Dept Mol & Med Genet, Toronto, ON M5S 1A8, Canada

[5] Univ Toronto, Inst Med Sci, Toronto, ON M5S 1A8, Canada

[6] Hosp Sick Children, Program Genet & Genom Biol, Toronto, ON M5G 1X8, Canada

[7] Univ Pompeu Fabra, Dept Ciencies Expt & Salut, Unitat Genet, Barcelona, Spain

[8] Univ Nevada, Sch Med, Dept Pediat, Las Vegas, NV 89154 USA

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 2005年 / 353卷 / 16期

基金：

加拿大健康研究院;

关键词：

D O I：

10.1056/NEJMoa051962

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：1694 / 1701

页数：8

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