Innate frequency-discrimination hyperacuity in Williams-Beuren syndrome mice

Davenport, Christopher M.; Teubner, Brett J.W.; Han, Seung Baek; Patton, Mary H.; Eom, Tae-Yeon; Garić, Dušan; Lansdell, Benjamin; Shirinifard, Abbas; Chang, Ti-Cheng; Klein, Jonathon; Pruett-Miller, Shondra M.; Blundon, Jay A.; Zakharenko, Stanislav S.

doi:10.1016/j.cell.2022.08.022

Cited by 5 publications

(4 citation statements)

References 118 publications

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“…Additional measures of acoustic responsiveness, e.g., electrophysiological recordings of auditory brainstem potentials, may be useful in the future to confirm our startle finding. These measures have been indeed instrumental in assessing the acoustic phenotypes of CD mice in adulthood [49]. At PND 22 deficits in the open field were already detectable in CD mutants of both sexes, as previously reported in adulthood [45] where they add to motor coordination deficits in the rotarod test [6,45].…”

Section: Discussionsupporting

confidence: 54%

Early Neurobehavioral Characterization of the CD Mouse Model of Williams–Beuren Syndrome

Giannoccaro

Ferraguto

Petroni

et al. 2023

Cells

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Williams–Beuren syndrome (WBS) is a neurodevelopmental disorder caused by a chromosomic microdeletion (7q11.23). WBS has been modeled by a mouse line having a complete deletion (CD) of the equivalent mouse locus. This model has been largely used to investigate the etiopathological mechanisms of WBS, although pharmacological therapies have not been identified yet. Surprisingly, CD mice were so far mainly tested in adulthood, despite the developmental nature of WBS and the critical relevance of early timing for potential treatments. Here we provide for the first time a phenotypic characterization of CD mice of both sexes during infancy and adolescence, i.e., between birth and 7 weeks of age. CD pups of both sexes showed reduced body growth, delayed sensory development, and altered patterns of ultrasonic vocalizations and exploratory behaviors. Adolescent CD mice showed reduced locomotion and acoustic startle response, and altered social interaction and communication, the latter being more pronounced in female mice. Juvenile CD mutants of both sexes also displayed reduced brain weight, cortical and hippocampal dendritic length, and spine density. Our findings highlight the critical relevance of early neurobehavioral alterations as biomarkers of WBS pathology, underlying the importance of adolescence for identifying novel therapeutic targets for this neurological disorder.

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Section: Discussionsupporting

confidence: 54%

Early Neurobehavioral Characterization of the CD Mouse Model of Williams–Beuren Syndrome

Giannoccaro

Ferraguto

Petroni

et al. 2023

Cells

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“…Video sequences were motion stabilized to align each frame to a selected reference frame and jGCaMP8f fluorescence signals were extracted from the stabilized video sequence as previously described. 102 First, active neurons were identified manually in a max-projection image of all frames of the image sequence. Second, a narrow region of interest (ROI) surrounding each soma was created, and the total fluorescence intensities of the ROIs were calculated for each frame of the sequence to yield a jGCaMP8f activity value at each time point.…”

Section: Methodsmentioning

confidence: 99%

Sound-evoked adenosine release in cooperation with neuromodulatory circuits permits auditory cortical plasticity and perceptual learning

Bayazitov,

Teubner,

Feng

et al. 2024

Cell Reports

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“…WBS is a contiguous gene syndrome induced by a heterozygous deletion of 26 to 28 genes in the chromosome region 7q11.23. [2][3][4] This syndrome is caused by an unbalanced recombination on chromosome 7 during meiosis. Most cases are detected using fluorescence in situ hybridization.…”

Section: Introductionmentioning

confidence: 99%

“…Williams-Beuren syndrome (WBS), also known as Williams syndrome, is a rare complex developmental disorder affecting multiple systems. [ 1 , 2 ] The incidence of this disorder is approximately 1:10,000 live births, worldwide. WBS is a contiguous gene syndrome induced by a heterozygous deletion of 26 to 28 genes in the chromosome region 7q11.23.…”

Section: Introductionmentioning

confidence: 99%

Williams-Beuren syndrome in pediatric T-cell acute lymphoblastic leukemia: A rare case report and review of literature

Yang,

Ai,

Bai

et al. 2024

Medicine

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Background: Williams-Beuren syndrome (WBS) is a rare genetic disorder caused by hemizygous microdeletion of contiguous genes on chromosome 7q11.23. Although the phenotype features extensive heterogeneity in severity and performance, WBS is not considered to be a predisposing factor for cancer development. Currently, hematologic cancers, mainly Burkitt lymphoma, are rarely reported in patients with WBS. Here in, we report a unique case of T-cell acute lymphoblastic leukemia in a male child with WBS. Methods: This retrospective study analyzed the clinical data of this case receiving chemotherapy were analyzed. This is a retrospective study. Results: The patient, who exhibited a typical WBS phenotype and presented with hemorrhagic spots. Chromosomal genome-wide chip analysis (CMA) revealed abnormalities on chromosomes 7 and 9. The fusion gene STIL-TAL1 and mutations in BCL11B, NOTCH1, and USP7 have also been found and all been associated with the occurrence of T-cell leukemia. The patient responded well to the chemotherapy. Conclusion: To the best of our knowledge, this is the first reported case of WBS in T-cell acute lymphoblastic leukemia. We want to emphasize that the occurrence of leukemia in this patient might be related to the loss of 7q11.23 and microdeletion of 9p21.3 (including 3 TSGs), but the relationship between WBS and malignancy remains unclear. Further studies are required to clarify the relationship between WBS and malignancy.

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Innate frequency-discrimination hyperacuity in Williams-Beuren syndrome mice

Cited by 5 publications

References 118 publications

Early Neurobehavioral Characterization of the CD Mouse Model of Williams–Beuren Syndrome

Early Neurobehavioral Characterization of the CD Mouse Model of Williams–Beuren Syndrome

Sound-evoked adenosine release in cooperation with neuromodulatory circuits permits auditory cortical plasticity and perceptual learning

Williams-Beuren syndrome in pediatric T-cell acute lymphoblastic leukemia: A rare case report and review of literature

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