Beckwith–Wiedemann syndrome (BWSp) is a medical condition characterized by overgrowth, birth defects and increased risk of cancer during childhood. It affects 1 in 10,000 newborns worldwide. During pregnancy the presentation may be non-specific and the diagnosis is usually suspected after birth, complicating the management of pregnancy, delivery and the neonatal period. We studied the prenatal […]
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Dilated cardiomyopathy caused by truncating titin variants: long-term outcomes, arrhythmias, response to treatment and sex differences
Truncations of titin (TTNtv) is the most common genetic cause of dilated cardiomyopathy (DCM). In this study, we investigated the long-term natural history of DCM caused by TTNtv. In our study, we report longer follow-up times (median of 8 years) than previous studies and found that most patients were diagnosed with severe heart failure in […]
Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2
Although 60% of de novo Neurofibromatosis type 2 (NF2) patients are presumed to have mosaic NF2, the actual diagnostic rate of this condition remains low at around 20% because of the existing difficulties in detecting NF2 variants with low variant allele frequency. We have improved the diagnostic rate of mosaic NF2 by targeted deep sequencing […]
Stay at home: Implementation and impact of virtualizing cancer genetic services during COVID-19
Stay at home: Implementation and impact of virtualizing cancer genetic services during COVID-19 discusses the adaptations taken by a mainstay Canadian cancer genetics centre to adapt to physical distancing requirements and continue providing services during the global COVID-19 pandemic. These adaptations included virtualization of patients and staff through implementing electronic patient records, moving all appointments […]
A blood functional assay for clinical interpretation of germline TP53 variants
We describe the development and validation of a rapid p53 functional assay directly performed on patient’s blood samples. This assay is based on the measurement, using RT-QMPSF and RT-MLPA, of the p53 transcriptional response in blood cells exposed to genotoxic agents. This assay, which yields a result within one week, constitutes a new tool for […]
Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective
Limb-girdle muscular dystrophy (LGMD) is a group of genetically heterogeneous disorders characterized by progressive proximal limb muscle weakness and dystrophic features in pathology. As the most prevailing subtype of LGMD, LGMD R1 is caused by recessive mutations in CAPN3 gene. Here we performed a retrospective analysis in recessive CAPN3 mutations identified in Chinese cohort and […]
A practical approach to the genetic diagnosis of unsolved dystrophinopathies: a stepwise strategy in the genomic era
Duchenne muscular dystrophy, the most common muscular dystrophy, and its other allelic forms of dystrophinopathies are caused by mutations in the DMD gene. Some patients with dystrophinopathies remain genetically undiagnosed after DNA-based routine genetic testing, most likely due to rare deep intronic variants and complex structural variants. To address this, we investigated DMD-related dystrophinopathies by […]
Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy
Fetus triploidy is a common cause of early miscarriages. In some cases, genetic predisposition has been suspected, but the genes involved are unknown. Here we explored the genetic cause of recurrent pregnancy loss associated with fetus triploidy in an Iranian family. We found a mutation in the cyclin B3 gene that is normally required to […]
Systematic evaluation of olfaction in patients with hereditary cystic kidney diseases/renal ciliopathies
Cilia are antenna-like protrusions found on almost every human cell type that are involved in the transmission of various sensations including the sense of smell. Thus, genetic defects disrupting the functional or structural integrity of cilia may result in olfactory dysfunction. Renal ciliopathies are among the most abundant representatives of these genetic disorders. Here, we […]
Sporadic vestibular schwannoma: a molecular testing summary
Our study reviews the prevalence of undiagnosed tumour predisposition disorders, schwannomatosis and NF2, in apparent cases of sporadic vestibular schwannoma (VS). We found that undiagnosed predisposition to these tumours may account for a significant proportion of apparently sporadic VS cases, especially in those presenting at a lower age. Somatic mutations in NF2 were common throughout […]