Constitutional chromosomal anomalies in children, fetal alcohol syndrome, and maternal toxicant exposures: A longitudinal cohort study
Mutat Res Genet Toxicol Environ Mutagen. 2024 Feb-Mar;894:503737. doi: 10.1016/j.mrgentox.2024.503737. Epub 2024 Feb 9.ABSTRACTDNA alterations in gametes, which may occur either spontaneously or as a result of exposure to genotoxicants, can lead to constitutional chromosomal anomalies in the offspring. Alcohol is an established genotoxicant. The goal of this hypothesis-testing longitudinal cohort study was to evaluate the effect of significant/sustained maternal alcohol exposure on clinically diagnosed constitutional chromosomal anomalies among children diagnosed with fetal alcohol syndrome (FAS). De-identified eligibility...
Source: Cell Research - March 3, 2024 Category: Cytology Authors: David A Geier Mark R Geier Source Type: research
Japanese 17q12 Deletion Syndrome with Complex Clinical Manifestations
Intern Med. 2024;63(5):687-692. doi: 10.2169/internalmedicine.1660-23.ABSTRACT17q12 deletion syndrome is a rare chromosomal anomaly with variable phenotypes, caused by the heterozygous deletion of chromosome 17q12. We herein report a 35-year-old Japanese patient with chromosomal 17q12 deletion syndrome identified by de novo deletion of the 1.46 Mb segment at the 17q12 band by genetic analyses. He exhibited a wide range of phenotypes, such as maturity-onset diabetes of the young (MODY) type 5, structural or functional abnormalities of the kidney, liver, and pancreas; facial dysmorphic features, electrolyte disorders; kerato...
Source: Internal Medicine - March 3, 2024 Category: Internal Medicine Authors: Yutaka Hasegawa Yoshihiko Takahashi Kan Nagasawa Hirofumi Kinno Tomoyasu Oda Mari Hangai Yoshimi Odashima Yoko Suzuki Jun Shimizu Toshihiko Ando Isao Egawa Kouhei Hashizume Koji Nata Daisuke Yabe Yukio Horikawa Yasushi Ishigaki Source Type: research
Effects of gene dosage and development on subcortical nuclei volumes in individuals with 22q11.2 copy number variations
Neuropsychopharmacology, Published online: 02 March 2024; doi:10.1038/s41386-024-01832-3Effects of gene dosage and development on subcortical nuclei volumes in individuals with 22q11.2 copy number variations (Source: Neuropsychopharmacology)
Source: Neuropsychopharmacology - March 2, 2024 Category: Neurology Authors: Charles H. Schleifer Kathleen P. O ’Hora Hoki Fung Jennifer Xu Taylor-Ann Robinson Angela S. Wu Leila Kushan-Wells Amy Lin Christopher R. K. Ching Carrie E. Bearden Source Type: research
Genes, Vol. 15, Pages 321: Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors
udio Pignata
Giuliana Giardino
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 “dua...
Source: Genes - February 29, 2024 Category: Genetics & Stem Cells Authors: Francesca Cillo Emma Coppola Federico Habetswallner Francesco Cecere Laura Pignata Elisabetta Toriello Antonio De Rosa Laura Grilli Antonio Ammendola Paolo Salerno Roberta Romano Emilia Cirillo Giuseppe Merla Andrea Riccio Claudio Pignata Giuliana Giardin Tags: Review Source Type: research
Correction to: Clinical and Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers
(Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - February 29, 2024 Category: Allergy & Immunology Source Type: research
Untargeted metabolomic, and proteomic analysis identifies metabolic biomarkers and pathway alterations in individuals with 22q11.2 deletion syndrome
ConclusionTo our knowledge, this is the first report on plasma metabolic and proteomic profiling and on the identification of unique biomarkers in 22q11.2DS. These findings may suggest the potential role of the identified metabolites and proteins as biomarkers for the onset of comorbid conditions in 22q11.2DS. Ultimately, the altered protein pathways in 22q11.2DS may provide insights of the biological mechanisms underlying the neurodevelopmental phenotype and may provide missing molecular outcome measures in future clinical trials to assess early-diagnosis treatment and the efficacy of response to targeted treatment. (Source: Metabolomics)
Source: Metabolomics - February 28, 2024 Category: Biology Source Type: research
A child with TSC2/PKD1 contiguous gene deletion syndrome successfully treated with tolvaptan for rapidly enlarging renal cysts
AbstractTolvaptan, a vasopressin receptor antagonist, has been shown to be effective in the treatment of renal cysts in ADPKD. However, tolvaptan is not indicated for pediatric patients, and reports of its use are rare, making its efficacy and adverse reactions unclear. Herein, we present the case of an 11-year-old girl who had vitiligo from birth. She was diagnosed with West syndrome at 6 months of age and tuberous sclerosis at 2 years of age. At the age of 6 years, an abdominal magnetic resonance imaging (MRI) revealed multiple bilateral renal cysts, and she was diagnosed with ADPKD. Abdominal MRI scans performed at ...
Source: CEN Case Reports - February 27, 2024 Category: Urology & Nephrology Source Type: research
Haploinsufficiency of < em > NKX2-1 < /em > is likely to contribute to developmental delay involving 14q13 microdeletions
Intractable Rare Dis Res. 2024 Feb;13(1):36-41. doi: 10.5582/irdr.2023.01119.ABSTRACTNucleotide variations or deletions in the NK2 homeobox 1 gene (NKX2-1), located at 14q13.3, lead to symptoms associated with the brain, lungs, and thyroid, and the combination of these phenotypes is clinically recognized as the brain-lung-thyroid syndrome. Many types of nucleotide variants of NKX2-1 have been identified, and phenotypic variability has been reported. Chromosomal deletions involving NKX2-1 have also been reported; however, phenotypic differences between patients with nucleotide variants of NKX2-1 and patients with chromosoma...
Source: Cell Research - February 26, 2024 Category: Cytology Authors: Osamu Machida Haruko Sakamoto Keiko Shimojima Yamamoto Yuiko Hasegawa Satoi Nii Hidenori Okada Kazuki Nishikawa Shin-Ichi Sumimoto Eriko Nishi Nobuhiko Okamoto Toshiyuki Yamamoto Source Type: research
Association of Y chromosome AZF region microdeletions with recurrent miscarriage in Iranian couples: A case-control study
CONCLUSION: Microdeletions in sY134 (AZFb) were significantly associated with RPL in Iranian men (p = 0.03). AZF microdeletion screening in couples with RPL can provide valuable information for ethnical genetic counseling and management of recurrent miscarriage. Further studies on larger populations or across various ethnic groups, conclusions and the inclusion of other factors like epigenetic changes explain the role of AZF microdeletions in RPL.PMID:38407572 | DOI:10.1002/mgg3.2392 (Source: Molecular Medicine)
Source: Molecular Medicine - February 26, 2024 Category: Molecular Biology Authors: Nasrin Pazoki Mitra Salehi Seyed Abdolhamid Angaji Meghdad Abdollahpour-Alitappeh Source Type: research
