Fabry disease is a rare inherited condition that can lead to serious renal, cardiac and cerebrovascular events. Using pooled clinical trial data, we examined the efficacy of migalastat, an oral treatment, in a large group of patients. The rate of newly occurring Fabry-associated clinical events (FACES) with prolonged treatment was low, regardless of whether patients […]
Latest articles
FXN gene methylation determines carrier status in Friedreich ataxia
Friedreich ataxia is a genetic condition that is characterized by progressive incoordination and unsteadiness that leads to loss of independent mobility, and premature mortality due to heart disease. It is transmitted by unaffected parents who are “carriers” for the genetic defect that causes Friedreich ataxia, which the child inherits from both parents. Genetic testing of […]
Clinical and genetic features of GATOR1 complex-associated epilepsy
We evaluated the mutant prevalence of GATOR1-complex encoded by DEPDC5, NPRL2 and NPRL3 genes, a modulator in mammalian target of rapamycin (mTOR) pathway, in Chinese epilepsy cohort and further defined the phenotype variation. we find that patients carrying DEPDC5-loss-of-function variants may have a high prevalence of focal seizures with a dynamic phenotype highlighting reduced penetrance […]
Reporting clinically relevant genetic variants unrelated to genomic test requests: a survey of Australian clinical laboratory policies and practices
A genetic test can identify genetic change(s) not related to the initial reason for doing the test. Internationally, there are differences in how these findings are managed. Survey responses from Australian testing laboratories found that they used several different terms to describe the findings, and had different reasons guiding their decision of whether to report them. […]
Differential rates of germline heterozygote and mosaic variants in NF2 may show varying propensity for meiotic or mitotic mutation
NF2-related-schwannomatosis is characterised by the development of benign tumours of nerve sheaths (schwannomas) and lining of the brain (meningiomas). Around 50—60% of affected people are the first in their family and half of these have genetic faults that change an amino acid to an instruction to stop making protein (nonsense). Although there are 60 positions […]
Biallelic mutations in CFAP54 cause male infertility with severe MMAF and NOA
As important pathogenic factors of male infertility, severe multiple morphological abnormalities of the sperm flagella (MMAF) and nonobstructive azoospermia (NOA) are mostly considered to be of genetic origin. Here, we identified biallelic deleterious variants of CFAP54 from three unrelated men with severe MMAF or NOA. CFAP54 deficiency could cause various morphological and ultrastructural abnormalities in […]
A new platform for RNA-based diagnosis of cancer predisposition syndromes
A large fraction of disease causing DNA variants are known to disrupt mRNA structure or expression. Whereas, long-read RNA sequencing is a powerful tool to assess mRNA structure, its sensitivity is limited. Here, we developed CAPLRseq as an adaptable workflow for effective transcriptome-based disease diagnosis. CAPLRseq can evaluate a wide range of simple and complex […]
Development of a comprehensive approach to adult hereditary cancer testing in Ontario
There has been a rapid expansion of genetic testing for hereditary cancer syndromes in oncology. In Ontario’s publicly funded health care system, a standardized approach to testing across the province supports equitable access. This study describes an method for establishing consensus on hereditary cancer testing across a broad spectrum of tumour types. This framework can […]
Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function
We describe the first bona fide case of a patient with craniosynostosis (the premature fusion of the gaps in our skull plates known as sutures) and a homozygous variant in SPRY1. The variant results in complete loss of the protein in the child, and reduced levels of the protein in both heterozygous parents. The child […]
A novel causative gene of epilepsy: Variants in BSN gene associated with epilepsy with favorable outcome
Epilepsy is a common neurological disorder featured by the recurrence of unprovoked seizures. The etiologies in the majority of patients with epilepsy still keep unknown. This study identified a novel causative gene of epilepsy—BSN gene. BSN gene encodes Bassoon, an essential protein to assemble the cytomatrix at the active zone of neurotransmitter release. In this […]