Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on Chromosome 7q11.23

Hirota, Hamao; Matsuoka, Rumiko; Chen, Xiao Ning; Salandanan, Lora S.; Lincoln, Alan J.; Rose, Fredric E.; Sunahara, Mariko; Ōsawa, Makiko; Bellugi, Ursula; Korenberg, Julie R.

doi:10.1097/01.gim.0000076975.10224.67

Cited by 110 publications

(107 citation statements)

References 41 publications

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“…ELN haploinsufficiency has been linked to supravalvular aortic and other stenoses (21,36,37), whereas a mouse model suggests that CYLN2 hemizygosity might contribute to the WBS cognitive profile (38). Furthermore, the study of WBS patients with atypical deletion suggests that GTF2IRD1, GTF2I and CYLN2 genes might contribute to the visual spatial processing deficits harbored by WBS patients (39,40). However, the gene(s) responsible for the IGT and silent diabetes reported in the majority of the WBS patients remains to be determined.…”

Section: Discussionmentioning

confidence: 99%

The subcellular localization of the ChoRE-binding protein, encoded by the Williams–Beuren syndrome critical region gene 14, is regulated by 14-3-3

Merla

Howald

Antonarakis

et al. 2004

Human Molecular Genetics

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Section: Discussionmentioning

confidence: 99%

The subcellular localization of the ChoRE-binding protein, encoded by the Williams–Beuren syndrome critical region gene 14, is regulated by 14-3-3

Merla

Howald

Antonarakis

et al. 2004

Human Molecular Genetics

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“…[15][16][17] Careful analysis of facial features of patients with atypical deletion and varying degrees of craniofacial abnormalities and animal model studies suggest that genes at both proximal and distal ends of the deletion are involved in WBS craniofacial features. 3,[18][19][20][21] In particular, two genes have been postulated to be mainly involved in the craniofacial features of WBS, GTF2IRD1, and BAZ1B.…”

Section: Patient Wbs166mentioning

confidence: 99%

Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits

et al. 2013

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syndrome (WBS) is a multisystemic disorder caused by a hemizygous deletion of 1.5 Mb on chromosome 7q11.23 spanning 28 genes. A few patients with larger and smaller WBS deletion have been reported. They show clinical features that vary between isolated SVAS to the full spectrum of WBS phenotype, associated with epilepsy or autism spectrum behavior. Here we describe four patients with atypical WBS 7q11.23 deletions. Two carry B3.5 Mb larger deletion towards the telomere that includes Huntingtin-interacting protein 1 (HIP1) and tyrosine 3-monooxygenase/tryptophan 5-monooxigenase activation protein gamma (YWHAG) genes. Other two carry a shorter deletion of B1.2 Mb at centromeric side that excludes the distal WBS genes BAZ1B and FZD9. Along with previously reported cases, genotype-phenotype correlation in the patients described here further suggests that haploinsufficiency of HIP1 and YWHAG might cause the severe neurological and neuropsychological deficits including epilepsy and autistic traits, and that the preservation of BAZ1B and FZD9 genes may be related to mild facial features and moderate neuropsychological deficits. This report highlights the importance to characterize additional patients with 7q11.23 atypical deletions comparing neuropsychological and clinical features between these individuals to shed light on the pathogenic role of genes within and flanking the WBS region.

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“…It has been shown that GTF2I interacts with GTF2IRD1 [131]. Studies on phenotypic features in patients with partial deletions of WBS region suggest that GTF2I and GTF2IRD1 have overlapping function and are involved in the development of the cognitive-behavioural profile of WBS, especially the severe visuospatial construction deficit and the hypersociability [92,93,132]. Immunhistological staining on brain tissues from WBS patients revealed a lack of staining for GTF2I in neurons from the posterior parietal lobe which include parts of the dorsal parietal visual pathway [133].…”

Section: Genomic Region Of Block Bmentioning

confidence: 99%

The genomic basis of the Williams – Beuren syndrome

Schubert

2008

Cell. Mol. Life Sci.

214

161

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. The Williams-Beuren syndrome is a genomic disorder (prevalence: 1/7,500 to 1/20,000), caused by a hemizygous contiguous gene deletion on chromosome 7q11.23. Typical symptoms comprise supravalvular aortic stenosis, mental retardation, overfriendliness and visuospatial impairment. The common deletion sizes range of 1.5–1.8 mega base pairs (Mb), encompassing app. 28 genes. For a few genes, a genotype-phenotype correlation has been established. The best-explored gene within this region is the elastin gene; its haploinsufficiency causes arterial stenosis. The region of the Williams-Beuren syndrome consists of a single copy gene region (~1.2 Mb) flanked by repetitive sequences – Low Copy Repeats (LCR). The deletions arise as a consequence of misalignment of these repetitive sequences during meiosis and a following unequal crossing over due to high similarity of LCRs. This review presents an overview of the Williams-Beuren syndrome region considering the genomic assembly, chromosomal rearrangements and their mechanisms (i.e. deletions, duplications, inversions) and evolutionary and historical aspects.

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Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on Chromosome 7q11.23

Cited by 110 publications

References 41 publications

The subcellular localization of the ChoRE-binding protein, encoded by the Williams–Beuren syndrome critical region gene 14, is regulated by 14-3-3

The subcellular localization of the ChoRE-binding protein, encoded by the Williams–Beuren syndrome critical region gene 14, is regulated by 14-3-3

Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits

The genomic basis of the Williams – Beuren syndrome

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