NCOR2 is a candidate gene for neurodevelopmental disorders
Whole genome and exome sequencing have revolutionized our understanding of the molecular basis of neurodevelopmental disorders. Many neurodevelopmental disorders of unknown etiology or those previously attributed to chromosomal structural variations are now being characterized molecularly. We recently found biallelic variations in NCOR2 encoding nuclear receptor corepressor 2 (NCOR2) in a child with autism, intellectual impairment, and chromosome 16p13.11 microdeletion by whole exome sequencing. (Source: Pediatric Neurology)
Source: Pediatric Neurology - April 6, 2024 Category: Neurology Authors: Pankaj Prasun Tags: Short Communication Source Type: research
Aberrant Subclavian Artery in Interrupted Aortic Arch with Severe Aortic Outlet Obstruction: Cerebral Blood Flow as a Possible Determinant of Embryonic Cardiovascular Development?
AbstractAberrant subclavian artery (ASCA) is frequently observed in interrupted aortic arch (IAA) with aortic/subaortic obstruction. Developmental significance of ASCA in IAA in utero remains elusive. Newborns with prenatally diagnosed isolated IAA under continuous prostaglandin E1 infusion were studied. Cross-sectional areas of aortic valve opening (AVOCSA) and patent ductus arteriosus (PDACSA) were represented by echocardiographic measurement of (diameter)2 indexed by body surface area (m2). Types of IAA and presence of ASCA were examined in relation to sizes of AVOCSA and PDACSA. Twenty-four newborns with IAA (six type ...
Source: Pediatric Cardiology - April 5, 2024 Category: Cardiology Source Type: research
22q11.2 Deletion-Associated Blood-Brain Barrier Permeability Potentiates Systemic Capillary Leak Syndrome Neurologic Features
We report that the patient ’s serum significantly impairs barrier function of the 22qDS BBB compared to control. Only two other cases of pediatric SCLS with neurologic symptoms have been reported, and genetic risk factors have been suggested in both instances. As the third case to be reported, our findings are consistent wi th the hypothesis that genetic susceptibility of the BBB conferred by genes such as claudin-5 deleted in the 22q11.2 region promoted neurologic involvement during SCLS in this patient. (Source: Journal of Clinical Immunology)
Source: Journal of Clinical Immunology - April 5, 2024 Category: Allergy & Immunology Source Type: research
Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns
AbstractNewborn screening (NBS) for severe inborn errors of immunity (IEI), affecting T lymphocytes, and implementing measurements of T cell receptor excision circles (TREC) has been shown to be effective in early diagnosis and improved prognosis of patients with these genetic disorders. Few studies conducted on smaller groups of newborns report results of NBS that also include measurement of kappa-deleting recombination excision circles (KREC) for IEI affecting B lymphocytes. A pilot NBS study utilizing TREC/KREC detection was conducted on 202,908 infants born in 8 regions of Russia over a 14-month period. One hundred thi...
Source: Journal of Clinical Immunology - April 5, 2024 Category: Allergy & Immunology Source Type: research
Differential DNA methylation in iPSC-derived dopaminergic neurons: a step forward on the role of SNORD116 microdeletion in the pathophysiology of addictive behavior in Prader-Willi syndrome
Molecular Psychiatry, Published online: 02 April 2024; doi:10.1038/s41380-024-02542-4Differential DNA methylation in iPSC-derived dopaminergic neurons: a step forward on the role of SNORD116 microdeletion in the pathophysiology of addictive behavior in Prader-Willi syndrome (Source: Molecular Psychiatry)
Source: Molecular Psychiatry - April 2, 2024 Category: Psychiatry Authors: Juliette Salles Sanaa Eddiry Saber Amri M élissa Galindo Emmanuelle Lacassagne Simon George Xavier Mialhe Émeline Lhuillier Nicolas Franchitto Freddy Jeanneteau Isabelle Gennero Jean-Pierre Salles Maith é Tauber Source Type: research
Initial clinical and molecular investigation of 20q13.33 microdeletion with 17q25.3/14q32.31q32.33 microduplication in Chinese pediatric patients
CONCLUSION: In the present study, for the first time, an investigation was conducted into two novel cases of 20q13.33 microdeletion with microduplications in the 17q25.3 and 14q32.31q32.33 regions in the Chinese population. The presence of micropenis may be attributed to the 20q13.33 microdeletion, potentially expanding the phenotypic spectrum associated with this deletion.PMID:38553934 | DOI:10.1002/mgg3.2429 (Source: Molecular Medicine)
Source: Molecular Medicine - March 30, 2024 Category: Molecular Biology Authors: Jianlong Zhuang Na Zhang Junyu Wang Yuying Jiang Hegan Zhang Chunnuan Chen Source Type: research
Initial clinical and molecular investigation of 20q13.33 microdeletion with 17q25.3/14q32.31q32.33 microduplication in Chinese pediatric patients
CONCLUSION: In the present study, for the first time, an investigation was conducted into two novel cases of 20q13.33 microdeletion with microduplications in the 17q25.3 and 14q32.31q32.33 regions in the Chinese population. The presence of micropenis may be attributed to the 20q13.33 microdeletion, potentially expanding the phenotypic spectrum associated with this deletion.PMID:38553934 | PMC:PMC10980884 | DOI:10.1002/mgg3.2429 (Source: Molecular Medicine)
Source: Molecular Medicine - March 30, 2024 Category: Molecular Biology Authors: Jianlong Zhuang Na Zhang Junyu Wang Yuying Jiang Hegan Zhang Chunnuan Chen Source Type: research
Initial clinical and molecular investigation of 20q13.33 microdeletion with 17q25.3/14q32.31q32.33 microduplication in Chinese pediatric patients
ConclusionIn the present study, for the first time, an investigation was conducted into two novel cases of 20q13.33 microdeletion with microduplications in the 17q25.3 and 14q32.31q32.33 regions in the Chinese population. The presence of micropenis may be attributed to the 20q13.33 microdeletion, potentially expanding the phenotypic spectrum associated with this deletion. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 30, 2024 Category: Genetics & Stem Cells Authors: Jianlong Zhuang,
Na Zhang,
Junyu Wang,
Yuying Jiang,
Hegan Zhang,
Chunnuan Chen Tags: ORIGINAL ARTICLE Source Type: research
Genes, Vol. 15, Pages 440: Neuroanatomical Correlates of Cognitive Dysfunction in 22q11.2 Deletion Syndrome
itt
22q11.2 Deletion Syndrome (22q11.2DS), the most common chromosomal microdeletion, presents as a heterogeneous phenotype characterized by an array of anatomical, behavioral, and cognitive abnormalities. Individuals with 22q11.2DS exhibit extensive cognitive deficits, both in overall intellectual capacity and focal challenges in executive functioning, attentional control, perceptual abilities, motor skills, verbal processing, as well as socioemotional operations. Heterogeneity is an intrinsic factor of the deletion’s clinical manifestation in these cognitive domains. Structural imaging has identified si...
Source: Genes - March 30, 2024 Category: Genetics & Stem Cells Authors: Simon Smerconish James Eric Schmitt Tags: Review Source Type: research
Correction: Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population
(Source: Journal of Human Genetics)
Source: Journal of Human Genetics - March 29, 2024 Category: Genetics & Stem Cells Source Type: research
Genetic profile of a large Spanish cohort with hypercalcemia
ConclusionsOur study demonstrates the importance of genetic analysis through massive sequencing to obtain a clinical diagnosis of certainty. The identification of patients with a genetic cause is important for the appropriate treatment and identification of family members at risk of the disease. (Source: Frontiers in Endocrinology)
Source: Frontiers in Endocrinology - March 22, 2024 Category: Endocrinology Source Type: research
De novo start-loss variant in HIRA in patient with DiGeorge-like syndrome
Clin Genet. 2024 Mar 21. doi: 10.1111/cge.14521. Online ahead of print.ABSTRACTA case of a newborn with tetralogy of Fallot, corpus callosum hypoplasia, and phenotypic features similar to DiGeorge syndrome. Chromosomal microarray analysis did not reveal any alterations. Whole exome sequencing and Sanger sequencing identified a de novo variant in the HIRA gene resulting in the loss of the start codon.PMID:38511226 | DOI:10.1111/cge.14521 (Source: Clinical Genetics)
Source: Clinical Genetics - March 21, 2024 Category: Genetics & Stem Cells Authors: Dmitry Maslennikov Ekaterina Tolmacheva Jekaterina Shubina Grigory Vasiliev Margarita Rogacheva Ksenia Svirepova Dmitry Trofimov Source Type: research
Congenital cytomegalovirus infection in a preterm infant with 22q11.2 deletion syndrome and immunological abnormalities
We report a case of a preterm infant with congenital cytomegalovirus infection complicated with 22q11.2 deletion syndrome and immunological abnormalities. Ultrasonography revealed pulmonary atresia, ventricular septal defect, major aortopulmonary collateral artery, and thymic hypoplasia. His serum chemistry tests on admission revealed immunoglobulin G, A, and M levels of 1,547 mg/dL, 70 mg/dL, and 274 mg/dL, respectively. A surface antigen analysis of the peripheral lymphocytes using flow cytometry revealed the following: relatively low CD4-positive T-cell levels (18.1%; 1,767/μL), very high CD8-positive T-cell levels (58...
Source: Nagoya Journal of Medical Science - March 20, 2024 Category: International Medicine & Public Health Authors: Yoshihiko Shitara Etsushi Toyofuku Hideki Doi Takeo Mukai Kohei Kashima Satsuki Kakiuchi Motohiro Kato Naoto Takahashi Source Type: research
