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Interpreting the actionable clinical role of rare variants associated with short QT syndrome.
Hum Genet
December 2024
Medical Science Department, School of Medicine, Universitat de Girona, C/ Emili Grahit 77, Girona, Catalonia, 17003, Spain.
Article Synopsis
- Genetic testing is crucial for diagnosing short QT syndrome, a rare inherited condition that leads to dangerous heart rhythms and is marked by short QT intervals on an ECG.
- Researchers reviewed and updated knowledge about 34 rare genetic variants linked to short QT syndrome, identifying only nine that definitively cause the condition.
- The variants were found in four main genes (KCNQ1, KCNH2, KCNJ2, SLC4A3), highlighting the importance of reanalyzing genetic data to improve patient care and early identification of at-risk individuals.
Functional pathogenicity of ESRRB variant of uncertain significance contributes to hearing loss (DFNB35).
Sci Rep
September 2024
Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.
Advances in next-generation sequencing technologies have led to elucidation of sensorineural hearing loss genetics and associated clinical impacts. However, studies on the functional pathogenicity of variants of uncertain significance (VUS), despite their close association with clinical phenotypes, are lacking. Here we identified compound heterozygous variants in ESRRB transcription factor gene linked to DFNB35, specifically a novel splicing variant (NM_004452.
View Article and Find Full Text PDFBackground: Hereditary breast/ovarian cancer is associated with BRCA gene mutations. As large volumes of clinical data on BRCA variants are continuously updated, their clinical interpretation may change, leading to their reclassification. This study analyzed the class and proportion of the changed clinical interpretations of BRCA variants to validate the need for periodic reviews of these variants.
View Article and Find Full Text PDFNon-coding 886 (/), the epigenetic odd duck - implications for future studies.
Epigenetics
December 2024
Molecular Epidemiology, Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland.
Non-coding 886 (, ) is the only human polymorphically imprinted gene, in which the methylation status is not determined by genetics. Existing literature regarding the establishment, stability and consequences of the methylation pattern, as well as the nature and function of the RNAs transcribed from the locus, are contradictory. For example, the methylation status of the locus has been reported to be stable through life and across somatic tissues, but also susceptible to environmental effects.
View Article and Find Full Text PDFReassessment of the NF1 variants of unknown significance found during the 20-year activity of a genetics diagnostic laboratory.
Eur J Med Genet
November 2023
Medical Genetics, University Hospital of Parma, 43126, Parma, Italy; Medical Genetics, Department of Medicine and Surgery, University of Parma, Parma, Italy. Electronic address:
The finding of variants of uncertain significance (VUS) in the activity of a diagnostic genetic laboratory is a common issue, which is however provisional and needs to be periodically re-evaluated, due to the continuous advancements in our knowledge of the genetic diseases. Neurofibromatosis type 1, caused by the occurrence of heterozygous pathogenic NF1 variants, is a good model for studying the evolution of VUS, due to the widespread use of genetic testing for the disease, the constant enrichment of the international databases with NF1 variants and the full adult penetrance of the disease, which makes genotyping the parents a crucial step in the diagnostic workflow. The present study retrospectively reviewed and reinterpreted the genetic test results of NF1 in a diagnostic genetic laboratory in the period from January 1, 2000 to December 31, 2020.
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