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Heritable Burden of Community Sudden Death by Autopsy and Molecular Phenotyping for Precision Genotype Correlation.
JACC Clin Electrophysiol
December 2024
Office of the Chief Medical Examiner, City and County of San Francisco, San Francisco, California, USA.
Background: Sudden cardiac death (SCD) genetic studies neglect the majority occurring in older decedents with cardiovascular pathology.
Objectives: This study sought to determine the burden of genetic disease in unselected adult sudden deaths by precision genotype-postmortem phenotype correlation.
Methods: The authors used autopsy, histology, and toxicology to adjudicate cause and identify high-suspicion phenotypes (eg, hypertrophic cardiomyopathy) among presumed SCDs aged 18 to 90 years referred to the county medical examiner from February 2011 to January 2018.
Expanding the phenotypic spectrum of CSNK2A1-associated Okur-Chung neurodevelopmental syndrome.
HGG Adv
November 2024
Steve and Cindy Rasmussen Institute for Genomic Medicine, The Research Institute at Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA. Electronic address:
Article Synopsis
- De novo variants in the CSNK2A1 gene cause autosomal dominant Okur-Chung neurodevelopmental syndrome (OCNDS), characterized by intellectual disability, global delays, dysmorphic features, and immunological issues.
- A study of four individuals from three families identified three pathogenic missense variants in CSNK2A1, adding new evidence to the link between these genetic variants and OCNDS.
- The research highlights that smaller head circumference, including microcephaly, is common but often overlooked in OCNDS, with a significant correlation between variant location in the protein and the presence of microcephaly.
Genotype-phenotype findings in patients with mucopolysaccharidosis II from the Hunter Outcome Survey.
Mol Genet Metab
October 2024
Department of Genetics/UFRGS, Medical Genetics Service/HCPA, INAGEMP, DASA and Casa dos Raros, Porto Alegre, Brazil. Electronic address:
Purpose: This study investigated the relationship between mucopolysaccharidosis II (MPS II) iduronate-2-sulfatase gene (IDS) variants and phenotypic characteristics, particularly cognitive impairment, using data from the Hunter Outcome Survey (HOS) registry.
Methods: HOS data for male patients (n = 650) aged ≥5 years at latest cognitive assessment with available genetic data were analyzed. Predefined genotype categories were used to classify IDS variants and report phenotypic characteristics by genotype.
The paradox of predictability provides a bridge between micro- and macroevolution.
J Evol Biol
December 2024
Department of Biological Science, Florida State University, Tallahassee, United States.
The relationship between the evolutionary dynamics observed in contemporary populations (microevolution) and evolution on timescales of millions of years (macroevolution) has been a topic of considerable debate. Historically, this debate centers on inconsistencies between microevolutionary processes and macroevolutionary patterns. Here, we characterize a striking exception: emerging evidence indicates that standing variation in contemporary populations and macroevolutionary rates of phenotypic divergence is often positively correlated.
View Article and Find Full Text PDFConstitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants.
NPJ Precis Oncol
May 2024
Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Lynch syndrome (LS) and constitutional mismatch repair deficiency (CMMRD) are distinct cancer syndromes caused, respectively, by mono- and bi-allelic germline mismatch repair (MMR) variants. LS predisposes to mainly gastrointestinal and genitourinary cancers in adulthood. CMMRD predisposes to brain, haematological, and LS-spectrum cancers from childhood.
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