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22q11 Deletion Syndrome - Crossref

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Last Updated: 16 April 2022

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Deficits in microRNA-mediated Cxcr4/Cxcl12 signaling in neurodevelopmental deficits in a 22q11 deletion syndrome mouse model

Significance 22q11 deletion syndrome is a chromosome disorder that commonly occurs in conjunction with psychiatric disorders, such as schizophrenia. Here we show that a 22q11DS mouse model has deficits in the growth of interneurons and hippocampal dentate gyrus, as well as the DiGeorge syndrome critical region gene 8, a microprocessor of microRNA and one of the genes in 22q11, is responsible for these neurodevelopmental abnormalities. And, we also noticed decreased expression of CXCL12 in olfactory neurons from sporadic schizophrenia.

Source link: https://doi.org/10.1073/pnas.1312661110


Evidence That the Association Between Hypernasality and 22q11 Deletion Syndrome Still Goes Undetected: A Case Study

This paper discusses the need for increasing understanding that hypernasality, velopharyngeal insufficiency, and a slew of other anomalies may be related to 22q11 deletion syndrome. Each health care specialist treated the child based on the individual's narrow view of the discipline, missing the child's disorders' etiology. It wasn't until the diagnosis of 22q11 deletion syndrome was revealed that coordinated care of the disorder was realized.

Source link: https://doi.org/10.1044/1058-0360.0903.197


Diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome

The 22q11 deletion syndrome, the result of a 1. 5- to 3-megabase deletion of human chromosome 22, has significantly increased the risk of "diseases of cortical communication" that may have arisen during childhood, such as schizophrenia and autism. We show that decreased dosage of the genes deleted in the 1. 5-Megabase 22q11 minimally important deleted region in a mouse model of 22q11DS specifically hinders neurogenesis and subsequent differentiation in the cerebral cortex. Proliferation of basal, but not apical, progenitors is disrupted, as a result, the frequency of layer 2/3, but not layer 5/6, projection neurons is changed.

Source link: https://doi.org/10.1073/pnas.0905696106


Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: Implications for 22q11 deletion syndrome

About 35% of patients with 22q11 deletion syndrome, which includes DiGeorge and velocardioac syndromes, experience psychological problems, mainly schizophrenia and bipolar disorder. Impaired PPI is linked to a variety of psychiatric disorders, including those that occur in 22q11DS, and in children with 22q11DS, reduced PPI was found. Here, we have mapped PPI deficiencies in a panel of mouse mutants with deletions that partially overlap with Df1 and have identified a PPI critical region encompassing four genes. We show that PPI deficiency in Df1 /+ mice are primarily due to haploinsufficiency of two genes, Tbx1 and Gnb1l. In other words, Tbx1 and Gnb1l are both excellent candidates for psychiatric disease in 22q11DS patients and candidate susceptibility genes for psychiatric disease in the general population.

Source link: https://doi.org/10.1073/pnas.0600206103


Linguistic and Nonverbal Abilities over Time in a Child Case of 22q11 Deletion Syndrome

Specifically, the expressive and expressive language performance as well as nonverbal IQ have been studied at two separate time points—when P. I. P. I. 's NVIQ and results on global and structured language tasks are comparable to those with similar developmental age and school-aged children with specific language impairments, according to a case-based approach. Both hypotheses are investigated, whether the language impairment in children with 22q11DS is specific to the condition or that there is co-morbidity with SLI.

Source link: https://doi.org/10.5964/bioling.9077


Dysphagia and disrupted cranial nerve development in a mouse model of DiGeorge/22q11 Deletion Syndrome

Summary We investigated feeding-related developmental abnormalities in Chromosome 22q11 Deletion Syndrome, a common developmental disorder that often includes debilitating feeding, swallowing, and nutrition difficulties from birth to adulthood, within its phenotypic range. During the first postnatal weeks, LgDel pups gained substantially less weight and showed many signs of respiratory disease aspiration due to food aspiration. Most 22q11 genes are present in anlagen of craniofacial and brainstem regions that are essential for feeding and swallowing, and reduced expression in LgDel embryos seems to have hampered with this region's development. Tbx1 deficiency gene Tbx1 in the 22q11DS candidate gene Tbx1. Molecular modification of RA signaling in LgDel embryos rescues the anterior CN V phenotype and returns expression levels or pattern of RA-sensitive genes to that in wild type embryos.

Source link: https://doi.org/10.1242/dmm.012484


HIC2 Is a Novel Dosage-Dependent Regulator of Cardiac Development Located Within the Distal 22q11 Deletion Syndrome Region

Rationale : 22q11 deletion syndrome results from recombination of low-copy repeats on chromosome 22. To test the hypothesis that HIC2 hemizygosity causes congenital heart disease, we used mouse models. Methods and Results - We created a genetrap mouse allele of Hic2. Throughout the key stages of cardiac morphogenesis, the genetrap reporter was born in the heart. The genetrap allele was embryonic lethal before embryonic day E10. 5, according to the heterozygous condition, although the heterozygous condition showed a somewhat penetrating tardiness. Hic2 was found in one of the Nkx2. 5+ and Mesp1+ cardiovascular progenitor seriesages, according to conditional targeting. Conclusions : Our findings support a new place for Hic2 in cardiac development. Hic2 is the first gene within the distal 22q11 interval to have a confirmed haploinsufficient cardiac phenotype in mice. Together our findings show that HIC2 haploinsufficiency may play a role in the cardiac abnormalities seen in distal 22q11 deletion syndrome.

Source link: https://doi.org/10.1161/circresaha.115.303300


Long-Term Follow-Up of Newborns with 22q11 Deletion Syndrome and Low TRECs

Abstract Background: Population-based neonatal screening using T-cell receptor excision circles identifies infants with profound T lymphopenia in cases of severe mixed immunodeficiency and in a subgroup of infants with 22q11 deletion syndrome. Purpose: With 22q11DS, we will investigate the long-term prognostic value of low TRECs in newborns with low TREC levels. Results As compared to healthy controls, the 22q11Low group had lower numbers of nave T-helper cells, nave T-regulatory cells, nave cytotoxic T cells, na've cytotoxic T cells, and consistently lower TRECs as compared to healthy controls. Kewed V-gene usage for nave T-helper cells was found in na's cytotoxic T cells, shorter RTL, and a trend toward higher clonality were found in nave cytotoxic T cells, according to a trend toward increased clonality. In both the 22q11Low and 22q11Normal groups, with higher proportions of nave B cells and lower numbers of memory B cells, as well as switched memory B cells, were discovered in both the 22q11Low and 22q11Normal group and lower numbers of B-cell subsets, as well as lower quantities of memory B cells, which included switched memory B cells.

Source link: https://doi.org/10.1007/s10875-021-01201-5


Persistent low thymic activity and non-cardiac mortality in children with chromosome 22q11·2 microdeletion and partial DiGeorge syndrome

We investigated naive platelet endothelial cell adhesion molecule-1-bearing lymphocytes in CD45RA+RO-CD4+ cells containing high numbers of T cell receptor excision circle -bearing lymphocytes in order to monitor thymic function, comparing them to healthy control values. In 65%/75%, respectively, of patients in period A 1/B1 and naive CD4+ T cell counts, comparison between two age groups, low overall CD4+, and naive CD4+ T cell numbers were determined in 65%/75%, respectively.

Source link: https://doi.org/10.1111/j.1365-2249.2008.03809.x


Olfactory Disorder in Children With 22q11 Deletion Syndrome

Despite its potential effects, pediatric studies of impaired olfaction are rare, and odor detection in children with 22q11 deletion syndrome has yet to be investigated. The University of Pennsylvania Smell Identification Test was administered to 62 children, including 39 with 22q11 deletion syndrome and 23 with neurotypical control siblings ranging in age from 5. 3 to 14. 8 years. More children with 22q11 deletion syndrome in comparison to neurotypical control patients had University of Pennsylvania Smell Identification Test results 2 SDs below the standardization sample mean, whereas normative control subjects had 21q11 deletion syndrome. The score distributions of children with and without velopharyngeal insufficiency did not differ; however, children with velopharyngeal insufficiency had a significantly lower score; however, children with velopharyngeal insufficiency had no change; however, children with velopharyngeal insufficiency had a significantly lower risk of olfaction, which indicated a negative effect on olfaction Odor detection defects are common among children with 22q11 deletion syndrome and are not correlated with developmental delay or performance characteristics of younger affected children.

Source link: https://doi.org/10.1542/peds.2005-3114

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions