Growth assessment in children with Williams-Beuren syndrome: a systematic review

Strafacci, Amanda de Sousa Lima; Camargo, Juliana Fernandes de; Bertapelli, Fábio; Júnior, Gil Guerra

doi:10.1007/s13353-020-00551-x

“…Growth restriction is another characteristic of WBS patients [ 4 ]. The WBSCR22 gene encodes a putative methyltransferase protein that is strongly expressed in the heart, skeletal muscle, and kidney.…”

Section: Discussionmentioning

confidence: 99%

“…It has been estimated that the prevalence of WBS is approximately 1/7500–1/20,000 [ 3 ]. Although the phenotype features extensive heterogeneity in severity and performance, patients usually show facial dysmorphism, cardiovascular abnormalities, intellectual disability, specific cognitive characteristics, developmental limitations, hypothyroidism, infantile hypercalcemia, and other clinical symptoms that affect multiple organs and systems [ 4 ]. However, it remains unclear how these gene deletions cause the characteristic phenotype of WBS, and this uncertainty may be related to the low expression of gene products.…”

Section: Introductionmentioning

confidence: 99%

Atypical deletion of Williams–Beuren syndrome reveals the mechanism of neurodevelopmental disorders

Zhou

¹

,

Zheng

²

,

Liang

³

et al. 2022

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Genes associated with specific neurocognitive phenotypes in Williams–Beuren syndrome are still controversially discussed. This study identified nine patients with atypical deletions out of 111 patients with Williams–Beuren syndrome; these deletions included seven smaller deletions and two larger deletions. One patient had normal neurodevelopment with a deletion of genes on the distal side of the Williams–Beuren syndrome chromosomal region, including GTF2I and GTF2IRD1. However, another patient retained these genes but showed neurodevelopmental abnormalities. By comparing the genotypes and phenotypes of patients with typical and atypical deletions and previous reports in the literature, we hypothesize that the BAZ1B, FZD9, and STX1A genes may play an important role in the neurodevelopment of patients with WBS.

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“…2 extended in centromeric direction, ranging from POM121 to GTF2IRD2. Although the deletion sites of patients No 4. and No.…”

mentioning

confidence: 94%

“…It has been estimated that the prevalence of WBS is about 1/7,500 to 1/20,000(3). Although the phenotype features extensive heterogeneity in severity and performance, it usually shows facial deformities, cardiovascular abnormalities, mental retardation, speci c cognitive characteristics, developmental limitations, hypothyroidism, infantile hypercalcemia, and other clinical symptoms that affect multiple organs and systems (4). However, it remains unclear how these gene deletions cause the characteristic phenotype of WBS, which may be related to the low expression of gene products.…”

Section: Introductionmentioning

confidence: 99%

Atypical Deletion of Williams-Beuren Syndrome Reveals the Mechanism of Neurodevelopmental Disorders

Zhou¹,

Zheng

²

,

Liang

³

et al. 2020

Preprint

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Background The Williams-Beuren syndrome (WBS) is a multiple phylogenetic disorder, caused by the hemizygous deletion of 1.55 to 1.84 Mb on chromosome 7q11.23, which encodes a fragment of 26 to 28 genes. Among these genes, the deletion of the elastin (ELN) gene haplotype is the main cause of cardiovascular abnormalities. Other genes, such as CLIP2, GTF2IRD1, and GTF2I, may be associated with specific cognitive and craniofacial features. However, genes associated with specific neurocognitive phenotypes are still controversially discussed. The purpose of this study is to further explore the mechanism of neurodevelopmental disorders in patients with Williams-Beuren syndrome.Patients and methods Patients who had been diagnosed with WBS were recruited. The deletion was precisely defined by chromosome microarray analysis and the clinical phenotype was evaluated. Results This study identified nine patients with atypical deletions from 111 patients with WBS. One patient had normal neurodevelopmental with deletion of Williams-Beuren syndrome chromosomal region (WBSCR) telomere side genes, including GTF2I and GTF2IRD1, while another patient retained these genes but showed neurodevelopmental abnormalities. Seven of the eight patients with the WBSCR22 gene deletion developed growth restriction.Conclusions By comparing the genotype and phenotype of patients with typical deletions and atypical deletions, the deletion of GTF2I and GTF2IRD1 genes alone insufficient to induce typical neurocognitive phenotypes in WBS patients. The BAZ1B, FZD9, and STX1A genes may play an important role in the neurodevelopment of patients with WBS. Furthermore, the deletion of the WBSCR22 gene may be the main cause of physical growth restriction in WBS patients.

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“…It has been estimated that the prevalence of WBS is about 1/7,500 to 1/20,000 (3). Although the phenotype features extensive heterogeneity in severity and performance, it usually shows facial deformities, cardiovascular abnormalities, mental retardation, speci c cognitive characteristics, developmental limitations, hypothyroidism, infantile hypercalcemia, and other clinical symptoms that affect multiple organs and systems (4).…”

Section: Introductionmentioning

confidence: 99%

Atypical Deletion of Williams-beuren Syndrome Reveals the Mechanism of Neurodevelopmental Disorders

Zhou¹,

Zheng

²

,

Liang

³

et al. 2021

Preprint

View full text Add to dashboard Cite

Background The Williams-Beuren syndrome (WBS) is a multiple phylogenetic disorder, caused by the hemizygous deletion of 1.55 to 1.84 Mb on chromosome 7q11.23, which encodes a fragment of 26 to 28 genes. Among these genes, the deletion of the elastin (ELN) gene haplotype is the main cause of cardiovascular abnormalities. Other genes, such as CLIP2, GTF2IRD1, and GTF2I, may be associated with specific cognitive and craniofacial features. However, genes associated with specific neurocognitive phenotypes are still controversially discussed. The purpose of this study is to further explore the mechanism of neurodevelopmental disorders in patients with Williams-Beuren syndrome.Patients and methods Patients who had been diagnosed with WBS were recruited. The deletion was precisely defined by chromosome microarray analysis and the clinical phenotype was evaluated. Results This study identified nine patients with atypical deletions from 111 patients with WBS. One patient had normal neurodevelopmental with deletion of Williams-Beuren syndrome chromosomal region (WBSCR) telomere side genes, including GTF2I and GTF2IRD1, while another patient retained these genes but showed neurodevelopmental abnormalities. Seven of the eight patients with the WBSCR22 gene deletion developed growth restriction.Conclusions By comparing the genotype and phenotype of patients with typical deletions and atypical deletions, the deletion of GTF2I and GTF2IRD1 genes alone insufficient to induce typical neurocognitive phenotypes in WBS patients. The BAZ1B, FZD9, and STX1A genes may play an important role in the neurodevelopment of patients with WBS. Furthermore, the deletion of the WBSCR22 gene may be the main cause of physical growth restriction in WBS patients.

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Growth assessment in children with Williams-Beuren syndrome: a systematic review

Cited by 12 publications

References 12 publications

Atypical deletion of Williams–Beuren syndrome reveals the mechanism of neurodevelopmental disorders

Atypical deletion of Williams–Beuren syndrome reveals the mechanism of neurodevelopmental disorders

Atypical Deletion of Williams-Beuren Syndrome Reveals the Mechanism of Neurodevelopmental Disorders

Atypical Deletion of Williams-beuren Syndrome Reveals the Mechanism of Neurodevelopmental Disorders

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