Chromatin Modifications in 22q11.2 Deletion Syndrome

Zhang, Zhe; Shi, Lei; Song, Li; Maurer, Kelly; Zhao, Xue; Zackai, Elaine H.; McGinn, Daniel; Crowley, T. Blaine; McGinn, Donna McDonald; Sullivan, Kathleen E.

doi:10.1007/s10875-021-01123-2

Cited by 12 publications

(5 citation statements)

References 43 publications

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“…The risk of recurrence between siblings in a de novo case is 2–3%, due to low-grade parental germline mosaicism. Affected individuals have a 50% risk of having an affected child [ 23 ].…”

Section: Discussionmentioning

confidence: 99%

Deletion Syndrome 22q11.2: A Systematic Review

et al. 2022

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22q11.2 deletion syndrome (DS 22q11.2) is a rare disease of genetic origin, caused by the loss of the q11.2 region of chromosome 22. It affects one in 4000 live newborns, and among the clinical manifestations that can occur in this syndrome are abnormalities in the parathyroid glands (producing calcium deficits), the palate, the heart and the thymus. It is also known as DiGeorge syndrome or velocardiofacial syndrome, among other names, depending on the clinical presentation of each individual. The main objective of the review was to update information on DS 22q11.2 from publications in the scientific literature. The daily activities of these patients are seriously impaired, due to the impact of the clinical manifestations. Interventions can be performed to improve their social, cognitive and emotional skills, thus increasing their ability to perform different daily activities.

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“…The risk of recurrence between siblings in a de novo case is 2–3%, due to low-grade parental germline mosaicism. Affected individuals have a 50% risk of having an affected child [ 23 ].…”

Section: Discussionmentioning

confidence: 99%

Deletion Syndrome 22q11.2: A Systematic Review

et al. 2022

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“…Genome-wide DNA methylation analysis has been used to identify specific episignatures in more than 40 genetic diseases, including some common microdeletion/duplication syndromes [ 129 ]. To date, only few studies have been performed to investigate the methylation profile in patients with 22q11.2DS [ 132 , 133 ].…”

Section: Epigenetic Mechanisms Implicated In the Syndromementioning

confidence: 99%

Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors

Cillo,

Coppola,

Habetswallner

et al. 2024

Genes

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Initially described as a triad of immunodeficiency, congenital heart defects and hypoparathyroidism, 22q11.2 deletion syndrome (22q11.2DS) now encompasses a great amount of abnormalities involving different systems. Approximately 85% of patients share a 3 Mb 22q11.2 region of hemizygous deletion in which 46 protein-coding genes are included. However, the hemizygosity of the genes of this region cannot fully explain the clinical phenotype and the phenotypic variability observed among patients. Additional mutations in genes located outside the deleted region, leading to “dual diagnosis”, have been described in 1% of patients. In some cases, the hemizygosity of the 22q11.2 region unmasks autosomal recessive conditions due to additional mutations on the non-deleted allele. Some of the deleted genes play a crucial role in gene expression regulation pathways, involving the whole genome. Typical miRNA expression patterns have been identified in 22q11.2DS, due to an alteration in miRNA biogenesis, affecting the expression of several target genes. Also, a methylation epi-signature in CpG islands differentiating patients from controls has been defined. Herein, we summarize the evidence on the genetic and epigenetic mechanisms implicated in the pathogenesis of the clinical manifestations of 22q11.2 DS. The review of the literature confirms the hypothesis that the 22q11.2DS phenotype results from a network of interactions between deleted protein-coding genes and altered epigenetic regulation.

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“…Furthermore, some patients with PFAA may exhibit distinct facial and bodily abnormalities in clinical practice, which may be linked to genetic and chromosomal abnormalities, such as 22q11.2 chromosome deletion ( 16 , 20 , 45 , 46 ), PHACE ( 25 ), and Cornelia de Lange syndromes (CdLS) ( 47 ). Based on our literature review, six cases of PFAA were associated with 22q11.2 chromosome deletion syndrome, and they primarily presented with scoliosis ( 48 ), palate abnormalities, facial deformities, hypocalcaemia ( 46 ), T-cell-mediated immune deficiency ( 49 ), and mild-to-moderate growth retardation. Growth retardation and poor feeding were the most common symptoms.…”

Section: Clinical Symptoms and Complicationsmentioning

confidence: 99%

Persistent fifth aortic arch: a comprehensive literature review

Huang

Zheng

et al. 2023

Front. Pediatr.

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Persistent fifth aortic arch (PFAA) is an extremely rare congenital cardiovascular anomaly resulting from the failure of the fifth aortic arch to degenerate during embryonic development; it is often associated with various other cardiovascular anomalies. Despite being first reported by Van Praagh in 1969, there have been only a few individual case reports. Owing to its rarity and lack of comprehensive understanding, PFAA is often misdiagnosed or missed diagnosed during clinical. Thus, this review aimed to summarise the embryonic development, pathological classification, imaging diagnosis, and clinical treatment of PFAA to improve its overall understanding, ultimately helping in accurate diagnosis and treatment.

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Chromatin Modifications in 22q11.2 Deletion Syndrome

Cited by 12 publications

References 43 publications

Deletion Syndrome 22q11.2: A Systematic Review

Deletion Syndrome 22q11.2: A Systematic Review

Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors

Persistent fifth aortic arch: a comprehensive literature review

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