scholarly journals The complex behavioral phenotype of 15q13.3 microdeletion syndrome

2016 ◽  
Vol 18 (11) ◽  
pp. 1111-1118 ◽  
Author(s):  
Mark N. Ziats ◽  
Robin P. Goin-Kochel ◽  
Leandra N. Berry ◽  
May Ali ◽  
Jun Ge ◽  
...  
Keyword(s):  
Behavioral Phenotype ◽  
Microdeletion Syndrome

Hypersociability in the behavioral phenotype of 17q21.31 microdeletion syndrome

2012 ◽  
Vol 161 (1) ◽  
pp. 21-26 ◽  
Author(s):  
Jos I.M. Egger ◽  
Ellen Wingbermühle ◽  
Willem M.A. Verhoeven ◽  
Marije Dijkman ◽  
Sina Radke ◽  
...  
Keyword(s):  
Behavioral Phenotype ◽  
Microdeletion Syndrome

3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients

2013 ◽  
Vol 161 (12) ◽  
pp. 3018-3022 ◽  
Author(s):  
Santina Città ◽  
Serafino Buono ◽  
Donatella Greco ◽  
Concetta Barone ◽  
Enrico Alfei ◽  
...  
Keyword(s):  
Behavioral Phenotype ◽  
Microdeletion Syndrome ◽  
3Q29 Microdeletion

A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndrome

2021 ◽  
Vol 64 (5) ◽  
pp. 104190
Author(s):  
Claudia Santoro ◽  
Simona Riccio ◽  
Federica Palladino ◽  
Ferdinando Aliberti ◽  
Marco Carotenuto ◽  
...  
Keyword(s):  
Complex Phenotype ◽  
Microdeletion Syndrome ◽  
Nf1 Microdeletion Syndrome

Confirmation and further delineation of the 3q26.33–3q27.2 microdeletion syndrome

2014 ◽  
Vol 57 (2-3) ◽  
pp. 76-80 ◽  
Author(s):  
Majed Dasouki ◽  
Jennifer Roberts ◽  
Angela Santiago ◽  
Irfan Saadi ◽  
Karine Hovanes
Keyword(s):  
Microdeletion Syndrome

scholarly journals Estrogens Suppress a Behavioral Phenotype in Zebrafish Mutants of the Autism Risk Gene, CNTNAP2

Neuron ◽  
2016 ◽  
Vol 89 (4) ◽  
pp. 725-733 ◽  
Author(s):  
Ellen J. Hoffman ◽  
Katherine J. Turner ◽  
Joseph M. Fernandez ◽  
Daniel Cifuentes ◽  
Marcus Ghosh ◽  
...  
Keyword(s):  
Behavioral Phenotype ◽  
Risk Gene

Association of Behavioral Phenotypes With Changes in Sleep During a Workplace Wellness Program

2021 ◽  
pp. 089011712110150
Author(s):  
Kimberly J. Waddell ◽  
Sujatha Changolkar ◽  
Gregory Szwartz ◽  
Sarah Godby ◽  
Mitesh S. Patel
Keyword(s):  
Physical Activity ◽  
Sleep Duration ◽  
Physical Activity Intervention ◽  
Secondary Analysis ◽  
The United States ◽  
Behavioral Phenotype ◽  
Workplace Wellness ◽  
Wellness Program ◽  
Behavioral Phenotypes ◽  
Physically Active

Purpose: Examine changes in sleep duration by 3 behavioral phenotypes during a workplace wellness program with overweight and obese adults. Design: Secondary analysis of a randomized clinical trial Setting: Remotely monitored intervention conducted across the United States Subjects: 553 participants with a body mass index ≥25 Intervention: Participants were randomized to 1 of 4 study arms: control, gamification with support, gamification with collaboration, and gamification with competition to increase their physical activity. All participants were issued a wrist-worn wearable device to record their daily physical activity and sleep duration. Measures: The primary outcome was change in daily sleep duration from baseline during the 24 week intervention and follow-up period by study arm within behavioral phenotype class. Analysis: Linear mixed effects regression. Results: Participants who had a phenotype of less physically active and less social at baseline, in the gamification with collaboration arm, significantly increased their sleep duration during the intervention period (30.2 minutes [95% CI 6.9, 53.5], P = 0.01), compared to the control arm. There were no changes in sleep duration among participants who were more extroverted and motivated or participants who were less motivated and at-risk. Conclusions: Changes in sleep during a physical activity intervention varied by behavioral phenotype. Behavioral phenotypes may help to precisely identify who is likely to improve sleep duration during a physical activity intervention.

scholarly journals Mice with mutations in Trpm1, a gene in the locus of 15q13.3 microdeletion syndrome, display pronounced hyperactivity and decreased anxiety-like behavior

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Tesshu Hori ◽  
Shohei Ikuta ◽  
Satoko Hattori ◽  
Keizo Takao ◽  
Tsuyoshi Miyakawa ◽  
...  
Keyword(s):  
Visual Impairment ◽  
Wide Spectrum ◽  
Genetic Disorder ◽  
Mutant Mice ◽  
Chromosome 15 ◽  
Microdeletion Syndrome ◽  
Visual Transduction ◽  
The Central Nervous System ◽  
Null Mutant Mice

AbstractThe 15q13.3 microdeletion syndrome is a genetic disorder characterized by a wide spectrum of psychiatric disorders that is caused by the deletion of a region containing 7 genes on chromosome 15 (MTMR10, FAN1, TRPM1, MIR211, KLF13, OTUD7A, and CHRNA7). The contribution of each gene in this syndrome has been studied using mutant mouse models, but no single mouse model recapitulates the whole spectrum of human 15q13.3 microdeletion syndrome. The behavior of Trpm1−/− mice has not been investigated in relation to 15q13.3 microdeletion syndrome due to the visual impairment in these mice, which may confound the results of behavioral tests involving vision. We were able to perform a comprehensive behavioral test battery using Trpm1 null mutant mice to investigate the role of Trpm1, which is thought to be expressed solely in the retina, in the central nervous system and to examine the relationship between TRPM1 and 15q13.3 microdeletion syndrome. Our data demonstrate that Trpm1−/− mice exhibit abnormal behaviors that may explain some phenotypes of 15q13.3 microdeletion syndrome, including reduced anxiety-like behavior, abnormal social interaction, attenuated fear memory, and the most prominent phenotype of Trpm1 mutant mice, hyperactivity. While the ON visual transduction pathway is impaired in Trpm1−/− mice, we did not detect compensatory high sensitivities for other sensory modalities. The pathway for visual impairment is the same between Trpm1−/− mice and mGluR6−/− mice, but hyperlocomotor activity has not been reported in mGluR6−/− mice. These data suggest that the phenotype of Trpm1−/− mice extends beyond that expected from visual impairment alone. Here, we provide the first evidence associating TRPM1 with impairment of cognitive function similar to that observed in phenotypes of 15q13.3 microdeletion syndrome.

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