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
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
