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DIAGNOSIS OF WILLIAMS SYNDROME AND WILLIAMS SYNDROME COGNITIVE PROFILE BY ANALYSIS OF A LIM-KINASE GENE
DIAGNOSIS OF WILLIAMS SYNDROME AND WILLIAMS SYNDROME COGNITIVE PROFILE BY ANALYSIS OF A LIM-KINASE GENE
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机译：利姆激酶基因分析对威廉综合征和威廉综合征认知谱的诊断
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摘要
Williams syndrome (WS) is a developmental disorder that includes poorvisuospadal constructive cognition. This syndrome has beenstudied to idendify genes important for human cognitive development. Twofamilies are described which have a partial WS phenotype;affected members have the specific WS cognitive profile and vascular disease,but lack other WS features. Submicroscopic chromosome7q11.23 deletions cosegregate with this phenotype in both families. DNAsequence analyses of the region affected by the smallest (63.6kb) deletion revealed two genes, elastin (ELN) and LIM-kinase 1(LIMK1). Thelatter encodes a novel protein kinase with LIM domainsand is strongly expressed in the brain. Because ELN mutations cause vasculardisease but not cognitive abnornalities, these data implicateLIMK1 hemizygosity in impaired visuospatial constructive cognition.
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