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A rare splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data sets.
Eur Heart J
March 2025
Genomics and Inherited Disease Program, Garvan Institute of Medical Research and University of New South Wales, 384 Victoria Street, Darlinghurst, Sydney, NSW 2010, Australia.
Population-Scale Studies of Protein S Abnormalities and Thrombosis.
JAMA
March 2025
Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts.
Importance: Clinical decision-making in thrombotic disorders is impeded by long-standing uncertainty regarding the magnitude of venous and arterial thrombosis risk associated with low protein S. Population-scale multiomic datasets offer an unprecedented opportunity to answer questions regarding the epidemiology and clinical impacts of protein S deficiency.
Objective: To evaluate the risk associated with protein S deficiency across multiple thrombosis phenotypes.
Detecting the Difficult: An Intronic NPC1 Variant Hiding in Plain Sight.
Am J Med Genet A
March 2025
M Health Fairview Masonic Children's Hospital, Minneapolis, Minnesota, USA.
An illustration of the importance of manual data review for identifying rare intronic variants adjacent to homopolymers is presented here. A 14-year-old male with Niemann-Pick Type C disease confirmed biochemically was only found to have a heterozygous pathogenic variant by molecular analysis. A manual review of the Next Generation Sequencing (NGS) data identified a c.
View Article and Find Full Text PDFSOX9 haploinsufficiency reveals SOX9-Noggin interaction in BMP-SMAD signaling pathway in chondrogenesis.
Cell Mol Life Sci
March 2025
School of Biomedical Sciences, Faculty of Medicine, The Chinese University of Hong Kong, Shatin, Hong Kong SAR, China.
Campomelic Dysplasia (CD) is a rare congenital disease caused by haploinsufficiency (HI) in SOX9. Patients with CD typically present with skeletal abnormalities and 75% of them have sex reversal. In this study, we use CRISPR/Cas9 to generate a human induced pluripotent stem cell (hiPSC) model from a heathy male donor, based on a previously reported SOX9 splice site mutation in a CD patients.
View Article and Find Full Text PDFThe Arg99Gln Substitution in HNRNPC Is Associated with a Distinctive Clinical Phenotype Characterized by Facial Dysmorphism and Ocular and Cochlear Anomalies.
Genes (Basel)
February 2025
Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00143 Rome, Italy.
Heterozygous variants in the heterogeneous nuclear ribonucleoprotein C gene () have recently been reported to cause intellectual developmental disorder-74 (MRD74), a neurodevelopmental disorder with no recurrent diagnostic handles. Affected individuals show variable, non-specific, and subtle dysmorphic features. The degree of developmental delay (DD)/intellectual disability (ID) is also wide, ranging from mild to severe.
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