Cognitive, Behavioral, and Adaptive Profiles in Williams Syndrome With and Without Loss of <i>GTF2IRD2</i>

Serrano-Juárez, Carlos Alberto; Venegas-Vega, Carlos; Yáñez-Téllez, Ma. Guillermina; Rodríguez-Camacho, Mario; Silva‐Pereyra, Juan; Salgado–Ceballos, Hermelinda; Prieto-Corona, Belén

doi:10.1017/s1355617718000711

Cited by 12 publications

(9 citation statements)

References 48 publications

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“…WBS is a multisystem neurodevelopmental disorder. Ninety percent of the 7q11.21 region deletions of WBS patients are ∼1.5 Mb, 5%–8% are ∼1.8 Mb, and only 2%–5% are atypical (Ramírez‐Velazco et al., ; Serrano‐Juárez, Venegas‐Vega, & Yáñez‐Téllez, ). Our cases all belong to the typical deletions.…”

Section: Discussionmentioning

confidence: 99%

Intrauterine phenotype features of fetuses with Williams–Beuren syndrome and literature review

Yuan

Deng

Yang

et al. 2019

Annals of Human Genetics

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Williams-Beuren syndrome (WBS) is a well-defined multisystem chromosomal disorder that is caused by a chromosome 7q11.23 region heterozygous deletion. We explored prenatal diagnosis of WBS by ultrasound as well as multiple genetic methods to characterize the structural variants of WBS prenatally. Expanded noninvasive prenatal testing (NIPT-plus) was elected as a regular prenatal advanced screen for risk assessments of fetal chromosomal aneuploidy and genome-wide microdeletion/microduplication syndromes at the first trimester. At the second and three trimester, seven prenatal cases of WBS were evaluated for the indication of the invasive testing, the ultrasound features, cytogenetic, single-nucleotide polymorphism array (SNP array), and fluorescent quantitative PCR (QF-PCR) results. The NIPTplus results for seven fetuses were low risk. All cryptic aberrations were detected by the SNP array as karyotyping analyses were negative. Subsequently, QF-PCR further confirmed the seven deletions. Combining our cases with 10 prenatal cases from the literature, the most common sonographic features were intrauterine growth retardation (82.35%, 14/17) and congenital cardiovascular abnormalities (58.82%, 10/17).The manifestations of cardiovascular defects mainly involve supravalvar aortic stenosis (40%, 4/10), ventricular septal defect (30%, 3/10), aortic coarctation (20%, 2/10), and peripheral pulmonary artery stenosis (20%, 2/10). To the best of our knowledge, this is the first largest prenatal study of WBS cases with detailed molecular analysis. Aortic coarctation combined with persistent left superior vena cava and right aortic arch cardiovascular defects were first reported in prenatal WBS cases by our study.

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Section: Discussionmentioning

confidence: 99%

Intrauterine phenotype features of fetuses with Williams–Beuren syndrome and literature review

Yuan

Deng

Yang

et al. 2019

Annals of Human Genetics

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“…Although heterogeneity is to some extent unavoidable in a meta-analysis, as the included studies differ in various aspects, the observed values were generally high. This heterogeneity could be explained, at least partially, by the fact that people with WS present very diverse cognitive and linguistic profiles (e.g., Mervis et al, 1999, 2000; Porter & Coltheart, 2005), and only part of this cognitive variability is explained by variation in genetics (Porter et al, 2012; Serrano-Juárez et al, 2018). Therefore, the results of our meta-analysis should be taken with caution, since they refer to WS as a whole, but certain people diagnosed with this syndrome could present a diverse pattern of lexical-semantic abilities.…”

Section: Discussionmentioning

confidence: 99%

Beyond the conservative hypothesis: a meta-analysis of lexical-semantic processing in Williams syndrome

et al. 2023

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Williams syndrome (WS) is a rare genetic disorder, characterised at the cognitive level by a phenotypic pattern of relative weaknesses (e.g., visuospatial skills) and strengths (e.g., some linguistic and nonverbal reasoning skills). In this study, we performed a systematic search and meta-analysis on lexical-semantic processing in WS, an area of knowledge in which contradictory results have been obtained. We found 42 studies matching our criteria, and, in total, 78 effect sizes were included in the meta-analysis. Results showed that individuals with WS have worse lexical-semantic skills than individuals with typical development, whether matched by chronological or mental age. However, people with WS have better lexical-semantic skills than people diagnosed with other cognitive disabilities. Finally, vocabulary skills seem to be relatively spared in WS, although they present some difficulties in semantic processing/integration, semantic memory organisation and verbal working memory skills. Taken together, these results support a neuroconstructivist approach, according to which the cognitive mechanisms involved in lexical-semantic processing may be modulated, even when performance in some tasks (i.e., vocabulary tasks) might be optimal.

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“…The deleted region also encompassed GTF2IRD2 which is the distal breakpoint of the larger recurrent deletions, accounting for 5-8% of WBS patients. This gene was shown to have a regulatory effect on GTF2IRD1 and GTF2I, thus possibly increasing the severity of the neuropsychological phenotype, with particular regard of visuospatial abilities and social cognition (Serrano-Juárez et al, 2018).…”

Section: Discussionmentioning

confidence: 99%

Atypical 7q11.23 deletions excluding ELN gene result in Williams–Beuren syndrome craniofacial features and neurocognitive profile

Alesi

Loddo

Orlando

et al. 2020

American J of Med Genetics Pt A

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Williams–Beurens syndrome (WBS) is a rare genetic disorder caused by a recurrent 7q11.23 microdeletion. Clinical characteristics include typical facial dysmorphisms, weakness of connective tissue, short stature, mild to moderate intellectual disability and distinct behavioral phenotype. Cardiovascular diseases are common due to haploinsufficiency of ELN gene. A few cases of larger or smaller deletions have been reported spanning towards the centromeric or the telomeric regions, most of which included ELN gene. We report on three patients from two unrelated families, presenting with distinctive WBS features, harboring an atypical distal deletion excluding ELN gene. Our study supports a critical role of CLIP2, GTF2IRD1, and GTF2I gene in the WBS neurobehavioral profile and in craniofacial features, highlights a possible role of HIP1 in the autism spectrum disorder, and delineates a subgroup of WBS individuals with an atypical distal deletion not associated to an increased risk of cardiovascular defects.

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Cognitive, Behavioral, and Adaptive Profiles in Williams Syndrome With and Without Loss of GTF2IRD2

Cited by 12 publications

References 48 publications

Intrauterine phenotype features of fetuses with Williams–Beuren syndrome and literature review

Intrauterine phenotype features of fetuses with Williams–Beuren syndrome and literature review

Beyond the conservative hypothesis: a meta-analysis of lexical-semantic processing in Williams syndrome

Atypical 7q11.23 deletions excluding ELN gene result in Williams–Beuren syndrome craniofacial features and neurocognitive profile

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