Top Stories on arrhythmias in TANGO2 deficiency disorder
TANGO2 deficiency disorder (TDD) is a multisystem neurodegenerative disease first discovered by Lalani et al in 2016.1 This autosomal recessive disorder affects more than 8000 patients worldwide. About 1:500 individuals harbor a pathogenic TANGO2 variant that, notably, resides within the 22q11.21 locus. Thus, all patients with 22q11.21 deletion (DiGeorge) syndrome who are missing 1 copy of TANGO2 (tra nsportation and golgi organization homolog 2) are at risk of having both disorders should they harbor a second pathogenic allele. (Source: Heart Rhythm)
Source: Heart Rhythm - April 29, 2024 Category: Cardiology Authors: Christina Y. Miyake, Samuel J. Mackenzie, Lilei Zhang Tags: Top Stories: Pediatric Electrophysiology Source Type: research
Punctal Atresia As a Clinical Indicator of Systemic Genetic Anomalies
CONCLUSIONS: A high incidence of systemic syndromes (43%) was observed in the study cohort. In individuals with PA who also exhibit extraocular disease, systemic evaluation and genetic workup should be considered. Syndromic diagnoses identified in our cohort also include: Branchio-oto-renal syndrome, 22q11.2 deletion syndrome, 1q21.1 microdeletion syndrome, NF1, monosomy 4q and trisomy 6q, which represent novel associations. The lack of correlation between PA's phenotypic severity and systemic abnormalities highlights the need to obtain a comprehensive medical history and consider a systemic workup in PA patients.PMID:3864...
Source: Seminars in Ophthalmology - April 22, 2024 Category: Opthalmology Authors: Daphna Landau-Prat Rayna Marshall Alanna Strong James A Katowitz William R Katowitz Source Type: research
Screening and Diagnosis of Rare Thalassemia Variants
CONCLUSIONS.—: Rare thalassemia variants are more common than previously thought. Despite advancements in TGS, there is still no foolproof method for detection of all types of thalassemia. Thus, a comprehensive approach is necessary for accurate screening and diagnosis of rare thalassemia variants.PMID:38649152 | DOI:10.5858/arpa.2023-0382-OA (Source: Archives of Pathology and Laboratory Medicine)
Source: Archives of Pathology and Laboratory Medicine - April 22, 2024 Category: Laboratory Medicine Authors: Haishen Tang Yi Xiong Jiaqi Tang Xiaohong Wang Ya Wang Liping Huang Runli Wang Degang Wang Source Type: research
Screening and Diagnosis of Rare Thalassemia Variants
CONCLUSIONS.—: Rare thalassemia variants are more common than previously thought. Despite advancements in TGS, there is still no foolproof method for detection of all types of thalassemia. Thus, a comprehensive approach is necessary for accurate screening and diagnosis of rare thalassemia variants.PMID:38649152 | DOI:10.5858/arpa.2023-0382-OA (Source: Archives of Pathology and Laboratory Medicine)
Source: Archives of Pathology and Laboratory Medicine - April 22, 2024 Category: Laboratory Medicine Authors: Haishen Tang Yi Xiong Jiaqi Tang Xiaohong Wang Ya Wang Liping Huang Runli Wang Degang Wang Source Type: research
Genes, Vol. 15, Pages 518: 22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity
This study aimed to explore the association between clinical heterogeneity in 22q11.2DS and the parental origin of the deletion. The parental origin of the deletion was determined for 61 individuals with 22q11.2DS by genotyping DNA microsatellite markers and single-nucleotide polymorphisms (SNPs). Among the 61 individuals, 29 (47.5%) had a maternal origin of the deletion, and 32 (52.5%) a paternal origin. Comparison of the frequency of the main clinical features between individuals with deletions of maternal or paternal origin showed no statistically significant difference. However, Truncus arteriosus, pulmonary atresia, s...
Source: Genes - April 21, 2024 Category: Genetics & Stem Cells Authors: Melissa Bittencourt de Wallau Ana Carolina Xavier Carolina Ara újo Moreno Chong Ae Kim Elaine Lustosa Mendes Erlane Marques Ribeiro Amanda Oliveira T êmis Maria Félix Agnes Cristina Fett-Conte Luciana Cardoso Bonadia Gabriela Rold ão Correia-Costa Isa Tags: Article Source Type: research
Genes, Vol. 15, Pages 513: Genome Sequencing in an Individual Presenting with 22q11.2 Deletion Syndrome and Juvenile Idiopathic Arthritis
In this report, the authors describe a patient presenting with a short stature, neurodevelopmental delay, and dysmorphisms, who had an episode of polyarticular arthritis at the age of three years and eight months, resulting in severe joint limitations, and was later diagnosed with 22q11.2 deletion syndrome. Investigation through Whole Genome Sequencing revealed that he had no pathogenic or likely-pathogenic variants in both alleles of the MIF gene or in genes associated with monogenic arthritis (LACC1, LPIN2, MAFB, NFIL3, NOD2, PRG4, PRF1, STX11, TNFAIP3, TRHR, UNC13DI). However, the patient presented 41 risk polymorphisms...
Source: Genes - April 19, 2024 Category: Genetics & Stem Cells Authors: Ruy Pires de Oliveira-Sobrinho Simone Appenzeller Ianne Pessoa Holanda J úlia Lôndero Heleno Josep Jorente on behalf of the Rare Genomes Project Consortium on behalf of the Rare Genomes Project Consortium T ársis Paiva Vieira Carlos Eduardo Steiner Tags: Case Report Source Type: research
Bernard-Soulier syndrome caused by a novel GP1BB variant and 22q11.2 deletion
Int J Hematol. 2024 Apr 16. doi: 10.1007/s12185-024-03768-2. Online ahead of print.ABSTRACTBernard-Soulier syndrome (BSS) is caused by defects in GP1BA, GP1BB, or GP9 genes. Patients with 22q11.2 deletion syndrome (22q11.2DS) are obligate carriers of BSS because GP1BB resides on chromosome 22q11.2. A 15-month-old girl without bleeding symptoms had giant platelets and thrombocytopenia. Physical findings and macrothrombocytopenia suggested 22q11.2DS, which was confirmed by fluorescence in situ hybridization. Flow cytometry showed decreased GPIbα on the platelets. Gene panel testing revealed a novel variant in GP1BB, p.(Val1...
Source: International Journal of Hematology - April 16, 2024 Category: Hematology Authors: Rintaro Nagoshi Atsushi Sakamoto Tsuyoshi Imai Toru Uchiyama Tadashi Kaname Shinji Kunishima Akira Ishiguro Source Type: research
Bernard-Soulier syndrome caused by a novel GP1BB variant and 22q11.2 deletion
Int J Hematol. 2024 Apr 16. doi: 10.1007/s12185-024-03768-2. Online ahead of print.ABSTRACTBernard-Soulier syndrome (BSS) is caused by defects in GP1BA, GP1BB, or GP9 genes. Patients with 22q11.2 deletion syndrome (22q11.2DS) are obligate carriers of BSS because GP1BB resides on chromosome 22q11.2. A 15-month-old girl without bleeding symptoms had giant platelets and thrombocytopenia. Physical findings and macrothrombocytopenia suggested 22q11.2DS, which was confirmed by fluorescence in situ hybridization. Flow cytometry showed decreased GPIbα on the platelets. Gene panel testing revealed a novel variant in GP1BB, p.(Val1...
Source: International Journal of Hematology - April 16, 2024 Category: Hematology Authors: Rintaro Nagoshi Atsushi Sakamoto Tsuyoshi Imai Toru Uchiyama Tadashi Kaname Shinji Kunishima Akira Ishiguro Source Type: research
Buffering Mechanism in Aortic Arch Artery Formation and Congenital Heart Disease
CONCLUSIONS: Our studies uncover a novel buffering mechanism underlying the resiliency of PAA development and remodeling.PMID:38618720 | DOI:10.1161/CIRCRESAHA.123.322767 (Source: Cell Research)
Source: Cell Research - April 15, 2024 Category: Cytology Authors: AnnJosette Ramirez Christina A Vyzas Huaning Zhao Kevin Eng Karl Degenhardt Sophie Astrof Source Type: research
Buffering Mechanism in Aortic Arch Artery Formation and Congenital Heart Disease
CONCLUSIONS: Our studies uncover a novel buffering mechanism underlying the resiliency of PAA development and remodeling.PMID:38618720 | DOI:10.1161/CIRCRESAHA.123.322767 (Source: Circulation Research)
Source: Circulation Research - April 15, 2024 Category: Cardiology Authors: AnnJosette Ramirez Christina A Vyzas Huaning Zhao Kevin Eng Karl Degenhardt Sophie Astrof Source Type: research
Prenatal diagnosis of 18p deletion and 8p trisomy syndrome: literature review and report of a novel case
18p deletion syndrome constitutes one of the most frequent autosomal terminal deletion syndromes, affecting one in 50,000 live births. The syndrome has un-specific clinical features which vary significantly be... (Source: BMC Women's Health)
Source: BMC Women's Health - April 15, 2024 Category: OBGYN Authors: Maria Papamichail, Anna Eleftheriades, Emmanouil Manolakos, Adamantia Papamichail, Panagiotis Christopoulos, Gwendolin Manegold-Brauer and Makarios Eleftheriades Tags: Case Report Source Type: research
Robust and replicable functional brain signatures of 22q11.2 deletion syndrome and associated psychosis: a deep neural network-based multi-cohort study
Molecular Psychiatry, Published online: 12 April 2024; doi:10.1038/s41380-024-02495-8Robust and replicable functional brain signatures of 22q11.2 deletion syndrome and associated psychosis: a deep neural network-based multi-cohort study (Source: Molecular Psychiatry)
Source: Molecular Psychiatry - April 12, 2024 Category: Psychiatry Authors: Kaustubh Supekar Carlo de los Angeles Srikanth Ryali Leila Kushan Charlie Schleifer Gabriela Repetto Nicolas A. Crossley Tony Simon Carrie E. Bearden Vinod Menon Source Type: research
GNB1 and obesity: Evidence for a correlation between haploinsufficiency and syndromic obesity
SummaryMost patients withGNB1 encephalopathy have developmental delay and/or intellectual disability, brain anomalies and seizures. Recently, two cases withGNB1 encephalopathy caused by haploinsufficiency have been reported that also show a Prader –Willi-like phenotype of childhood hypotonia and severe obesity. Here we present three new cases from our expert centre for genetic obesity in whichGNB1 truncating and splice variants, probably leading to haploinsufficiency, were identified. They all have obesity, hyperphagia and intellectual deficit. The clinical cases and their weight courses are presented, together with a re...
Source: Clinical Obesity - April 10, 2024 Category: Eating Disorders & Weight Management Authors: Lotte Kleinendorst,
Ozair Abawi,
Niels Vos,
Eline S. van der Valk,
Saskia M. Maas,
Angela T. Morgan,
Michael S. Hildebrand,
Jorge D. Da Silva,
Ralph J. Florijn,
Peter Lauffer,
Jenny A. Visser,
Elisabeth F. C. van Rossum,
Erica L. T. van den Ak Tags: ORIGINAL RESEARCH Source Type: research
Hemivertebra with pathogenic microdeletion of chromosome 9
Key Clinical MessageHemivertebra is a rare congenital abnormality of the spinal column. Hemivertebra with other structural and cytogenetic abnormalities are reported. The prognosis is favorable with partial hemivertebra and with a single spinal defect as compared to a defect involving full segments and affecting different levels of the spines. The perinatal outcome is obscured when it is associated with other syndromes or cytogenetic abnormality. It is imperative to do serial thorough anatomical ultrasound scanning and to screen for chromosomal abnormality when hemivertebra is detected during pregnancy. (Source: Clinical Case Reports)
Source: Clinical Case Reports - April 8, 2024 Category: General Medicine Authors: Yeshey Dorjey,
Tashi Gyeltshen Tags: CASE REPORT Source Type: research
