Chromosome 1q21.1 deletion syndrome

Recurrent 1q21.1 deletion syndrome: report on variable expression, nonpenetrance and review of literature

Clinical Dysmorphology ◽

10.1097/mcd.0000000000000327 ◽

2020 ◽

Vol 29 (3) ◽

pp. 127-131

Author(s):

Priyanka Upadhyai ◽

Eram Fatima Amiri ◽

Vishal Singh Guleria ◽

Stephanie L. Bielas ◽

Katta Mohan Girisha ◽

...

Keyword(s):

Deletion Syndrome ◽

Review Of Literature ◽

Variable Expression ◽

1Q21.1 Deletion ◽

Syndrome Report

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AMPK signaling linked to the schizophrenia-associated 1q21.1 deletion is required for neuronal and sleep maintenance

10.1101/391722 ◽

2018 ◽

Author(s):

Stanislav Nagy ◽

Gianna W. Maurer ◽

Julie L. Hentze ◽

Shu Kondo ◽

Morten Rose ◽

...

Keyword(s):

Nervous System ◽

Protein Kinase ◽

Sleep Disturbances ◽

Deletion Syndrome ◽

Potential Contribution ◽

Sleep Maintenance ◽

Energy Sensor ◽

Increased Risk ◽

Amp Activated Protein Kinase ◽

1Q21.1 Deletion

AbstractThe human 1q21.1 deletion of ten genes is associated with increased risk schizophrenia. The deletion involves the ß-subunit of the AMP-activated protein kinase (AMPK) complex, a key energy sensor in the cell. Although neurons have a high demand for energy and low capacity to store nutrients, the role of AMPK in neuronal physiology is poorly defined. Here we show that AMPK is important in the nervous system for maintaining neuronal integrity and for stress survival and longevity in Drosophila. To understand its impact on behavior and potential contribution to the 1q21.1 deletion syndrome, we focused on sleep, as its main role is proposed to be to reestablish neuronal energy levels that are diminished during energy-demanding wakefulness. Sleep disturbances are one of the most common problems affecting individuals with psychiatric disorders. We show that AMPK is required to maintain proper sleep architecture and for sleep recovery following sleep deprivation. Neuronal AMPKß loss specifically leads to sleep fragmentation and causes dysregulation of genes believed to play a role in sleep homeostasis. Our data also suggest that AMPKß loss may contribute to the increased risk of developing mental disorders and sleep disturbances associated with the human 1q21.1 deletion. Sleep is regulated by circadian and homeostatic processes. While the circadian clock is well studied, the molecular mechanism underlying homeostasis remains largely unknown. Our data suggest that AMPK is required for sleep maintenance and may be involved in the homeostatic process of sleep regulation.Author SummaryThe human 1q21.1 chromosomal deletion is associated with increased risk of schizophrenia. Because this deletion affects only a small number of genes, it provides a unique opportunity to identify the specific disease-causing gene(s) using animal models. Here, we report the use of a Drosophila model to identify the potential contribution of one gene affected by the 1q21.1 deletion – PRKAB2 – to the pathology of the 1q21.1 deletion syndrome. PRKAB2 encodes a subunit of the AMP-activated protein kinase (AMPK) complex, the main cellular energy sensor. We show that AMPK deficiency reduces lifespan and causes structural abnormalities in neuronal dendritic structures, a phenotype which has been linked to schizophrenia. Furthermore, cognitive impairment and altered sleep patterning are some of the most common symptoms of schizophrenia. Therefore, to understand the potential contribution of PRKAB2 to the 1q21.1 syndrome, we tested whether AMPK alterations would cause defects in learning and sleep. Our study shows that lack of PRKAB2 and AMPK-complex activity, in the nervous system leads to reduced learning and to dramatic sleep disturbances. Thus, our data links a single 1q21.1-related gene with phenotypes that resemble common symptoms of schizophrenia, suggesting that this gene, PRKAB2, may contribute to the risk of developing schizophrenia.

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Hyponatremia: An Unusual Presentation in a Neonate With Chromosome 1q21.1 Deletion Syndrome

Frontiers in Pediatrics ◽

10.3389/fped.2018.00273 ◽

2018 ◽

Vol 6 ◽

Author(s):

Bakri Alzarka ◽

Rachel Usala ◽

Matthew T. Whitehead ◽

Sun-Young Ahn

Keyword(s):

Unusual Presentation ◽

Deletion Syndrome ◽

1Q21.1 Deletion

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Surgical Management of Patients With 22q11.2 Deletion Syndrome

Perspectives of the ASHA Special Interest Groups ◽

10.1044/2019_pers-sig5-2019-0004 ◽

2019 ◽

Vol 4 (5) ◽

pp. 857-869

Author(s):

Oksana A. Jackson ◽

Alison E. Kaye

Keyword(s):

Surgical Management ◽

Preoperative Evaluation ◽

Preoperative Assessment ◽

22Q11.2 Deletion Syndrome ◽

Deletion Syndrome ◽

22Q11.2 Deletion ◽

Surgical Decision ◽

Obstructive Sleep ◽

Spine Abnormalities ◽

Speech Assessment

Purpose The purpose of this tutorial was to describe the surgical management of palate-related abnormalities associated with 22q11.2 deletion syndrome. Craniofacial differences in 22q11.2 deletion syndrome may include overt or occult clefting of the palate and/or lip along with oropharyngeal variances that may lead to velopharyngeal dysfunction. This chapter will describe these circumstances, including incidence, diagnosis, and indications for surgical intervention. Speech assessment and imaging of the velopharyngeal system will be discussed as it relates to preoperative evaluation and surgical decision making. Important for patients with 22q11.2 deletion syndrome is appropriate preoperative screening to assess for internal carotid artery positioning, cervical spine abnormalities, and obstructive sleep apnea. Timing of surgery as well as different techniques, common complications, and outcomes will also be discussed. Conclusion Management of velopharyngeal dysfunction in patients with 22q11.2 deletion syndrome is challenging and requires thoughtful preoperative assessment and planning as well as a careful surgical technique.

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Psychosocial Risks and Management for Children and Adolescents With 22q11.2 Deletion Syndrome

Perspectives of the ASHA Special Interest Groups ◽

10.1044/2019_pers-sig5-2019-0002 ◽

2019 ◽

Vol 4 (4) ◽

pp. 633-640 ◽

Cited By ~ 1

Author(s):

Canice E. Crerand ◽

Ari N. Rabkin

Keyword(s):

Cognitive Abilities ◽

Psychotic Disorders ◽

Developmental Stages ◽

Early Adulthood ◽

22Q11.2 Deletion Syndrome ◽

Deletion Syndrome ◽

22Q11.2 Deletion ◽

Psychosocial Risks ◽

Empirically Supported ◽

Specific Education

Purpose This article reviews the psychosocial risks associated with 22q11.2 deletion syndrome, a relatively common genetic condition associated with a range of physical and psychiatric problems. Risks associated with developmental stages from infancy through adolescence and early adulthood are described, including developmental, learning, and intellectual disabilities as well as psychiatric disorders including anxiety, mood, and psychotic disorders. Other risks related to coping with health problems and related treatments are also detailed for both affected individuals and their families. Conclusion The article ends with strategies for addressing psychosocial risks including provision of condition-specific education, enhancement of social support, routine assessment of cognitive abilities, regular mental health screening, and referrals for empirically supported psychiatric and psychological treatments.

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