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• W2549393891 abstract "bilities, and a severe visual-spatial constructive impairment. Atypical deletions in the region have helped to establish genotype-phenotype correlations. So far, however, hardly any deletions affecting only a single gene in the disease region have been described. We present here two healthy siblings with a pure, hemizygous deletion of CLIP2. A putative role in the cognitive and behavioral abnormalities seen in Williams-Beuren patients has been suggested for this gene on the basis of observations in a knock-out mouse model. The presented siblings did not show any of the clinical features associated with the syndrome. Cognitive testing showed an average IQ for both and no indication of the Williams syndrome cognitive profile. This shows that CLIP2 haploinsufficiency by itself does not lead to the physical or cognitive characteristics of the Williams-Beuren syndrome, nor does it lead to the Williams syndrome cognitive profile. Although contribution of CLIP2 to the phenotype cannot be excluded when it is deleted in combination with other genes, our results support the hypothesis that GTF2IRD1 and GTF2I are the main genes causing the cognitive defects associated with Williams-Beuren syndrome. Williams-Beuren syndrome (WBS [MIM 194050]) is a rare neurodevelopmental disorder with an estimated frequency of 1/7,500 to 1/15,000. The WBS phenotype includes recognizable facial dysmorphisms, connective tissue abnormalities, cardiac defects (SVAS/PPS), structural brain abnormalities, transient infantile hypercalcemia, and a specific cognitive profile. 1‐3 Independent of the global IQ level, which is commonly in the mild range of intellectual disability, the Williams syndrome cognitive profile (WSCP) is globally characterized by a better-than-expected auditory rote memory ability, relatively spared language capabilities, and a severe visual-spatial constructive impairment. 4 The WSCP has been divided into sub-profiles involving severe impairments in visual-spatial processing and better skills in the verbal domain. It has further been demonstrated that specific defects exist in the working memory of WBS patients; these defects relate to both the verbal and spatial domains when patients need to process stored information. 5 Although the four indices of the Wechsler intelligence testing (verbal comprehension, working memory, perceptual organization, and processing speed) specifically query discrete cognitive domains, cognitive profiling of WBS patients typically reveals subindex differences on the individual subtest scores. Specifically, the WSCP translates to significantly higher scores on the vocabulary and similarities subtests of the verbal comprehension index, as well as to significantly lower scores on arithmetic, digit-symbol, and block-design subtests from the working-memory, processing-speed, and perceptual-organization tests, respectively. Despite the global impairment in working memory, WBS patients" @default.
• W2549393891 created "2016-11-30" @default.
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• W2549393891 date "2012-01-01" @default.
• W2549393891 modified "2023-09-27" @default.
• W2549393891 title "to the Clinical Manifestations of the Williams-Beuren Syndrome" @default.
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