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We report the first known case of a 9-year-old male with early-onset epilepsy, syncope, and ictal asystole-requiring pacemaker implantation at the age of seven-associated with a pathogenic variant in FGF12.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC12405065 | PMC |
http://dx.doi.org/10.1111/cge.70018 | DOI Listing |
Breast Cancer Res
September 2025
Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.
Background: Polygenic risk scores (PRS) are not yet standard in clinical risk assessments for familial breast cancer in Sweden. This study evaluated the distribution and impact of an established PRS (PRS) in women undergoing clinical sequencing for hereditary breast cancer.
Findings: We integrated PRS into a hereditary breast cancer gene panel used in clinical practice and calculated scores for 262 women.
Reprod Sci
September 2025
Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, India.
The genetic etiology is unknown for 30-40% of men with congenital bilateral absence of the vas deferens (CBAVD) and 70% of those with congenital unilateral absence of the vas deferens (CUAVD). The study aimed to investigate the genetic etiology of CBAVD/CUAVD, both with and without renal anomalies, in individuals who are negative for CFTR pathogenic variants. We included 19 cases of congenital absence of vas deferens (CAVD) that were negative for CFTR variants on Sanger sequencing.
View Article and Find Full Text PDFJ Hum Genet
September 2025
Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
In standard short-read whole-exome sequencing (WES), capture probes are typically designed to target the protein-coding regions (CDS), and regions outside the exons-except for adjacent intronic sequences-are rarely sequenced. Although the majority of known pathogenic variants reside within the CDS as nonsynonymous variants, some disease-causing variants are located in regions that are difficult to detect by WES alone, such as deep intronic variants and structural variants, often requiring whole-genome sequencing (WGS) for detection. Moreover, WES has limitations in reliably identifying pathogenic variants within mitochondrial DNA or repetitive regions.
View Article and Find Full Text PDFSignal Transduct Target Ther
September 2025
Beijing Key Laboratory of Surveillance, Early Warning and Pathogen Research on Emerging Infectious Diseases, Beijing Research Center for Respiratory Infectious Diseases, Public Health Emergency Management Innovation Center, Beijing Center for Disease Prevention and Control, Beijing, China. wangqy@bj
In November 2024, there was an unusual surge in human metapneumovirus (hMPV) infection cases in Beijing. We performed an epidemiological investigation among cases with acute respiratory tract infection (ARTI). We enrolled ARTI cases from 35 sentinel hospitals, collected samples and medical records, conducted comprehensive pathogen testing, sequenced target genes or whole genomes, and performed phylogenetic analysis.
View Article and Find Full Text PDFJ Clin Endocrinol Metab
September 2025
Endocrinology & Nutrition Department, Hospital Universitario de Vall d´Hebron, Barcelona, Spain.
Objective: Pituitary adenomas (PAs) are one of the three major lesions in Multiple Endocrine Neoplasia type 1 (MEN1), with a prevalence of 32 to 58%, yet their specific risk factors remain unidentified. This study aimed to identify predictors influencing PA occurrence in MEN1.
Methods: This nationwide, multicenter, retrospective cohort study involved 240 MEN1 patients, 55.