![]() High School Students and Undergraduates.Cancer Immunology and Immunotherapy Program.Cancer Epidemiology and Prevention Program.These variants were in genes known to cause embryonic or perinatal lethality (ALPL, GUSB, SLC17A5, MRPS16, THSD1, PIEZO1, and CTSA), genes known to cause Mendelian phenotypes that do not typically include embryonic lethality (INVS, FKTN, MYBPC3, COL11A2, KRIT1, ASCC1, NEB, LZTR1, TTC21B, AGT, KLHL41, GFPT1, and WDR81) and genes with no established links to human disease that we propose as novel candidates supported by embryonic lethality of their orthologs or other lines of evidence (MS4A7, SERPINA11, FCRL4, MYBPHL, PRPF19, VPS13D, KIAA1109, MOCS3, SVOPL, FEN1, HSPB11, KIF19, and EXOC3L2).ConclusionOur results suggest that molecular autopsy in pregnancy losses is a practical and high-yield alternative to traditional autopsy, and an opportunity for bringing precision medicine to the clinical practice of perinatology.UPMC Hillman Cancer Center scientists are committed to bringing innovative cancer discoveries from the lab to patients. Where no DNA was available from the fetus, we performed molecular autopsy by proxy, i.e., through parental testing.ResultsPathogenic or likely pathogenic variants were identified in 22 families (50%), and variants of unknown significance were identified in further 15 families (34%). PurposeThe application of genomic sequencing to investigate unexplained death during early human development, a form of lethality likely enriched for severe Mendelian disorders, has been limited.MethodsIn this study, we employed exome sequencing as a molecular autopsy tool in a cohort of 44 families with at least one death or lethal fetal malformation at any stage of in utero development. 18 Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.17 Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.16 Department of Pediatrics, King Fahad Medical City, Riyadh, Saudi Arabia.15 Department of Pediatrics, Armed Forces Hospital Program Southwest Region, Khamis Mushait, Saudi Arabia.14 Cologne Center for Genomics, University of Cologne, Köln, Germany.13 Department of Obstetrics and Gynecology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.12 Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.11 Genetics Unit, Department of Pediatrics, Faculty of Medicine, Ain Shams University, Cairo, Egypt.10 Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.9 Department of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia.8 Department of Obstetrics and Gynecology, Security Forces Hospital, Riyadh, Saudi Arabia.7 Maternal-Fetal Medicine Department, Women's Specialized Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.6 Department of Pediatrics, Price Sultan Military Medical City, Riyadh, Saudi Arabia. ![]() 5 Department of Obstetrics and Gynecology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.4 Department of Obstetrics and Gynecology, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia.3 Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Qatar.2 Department of Obstetrics and Gynecology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.1 Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. ![]()
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |