Generalised epilepsies are believed to be genetically determined, but the genetic causes for most patients remain unknown. The present study identified MACF1 variants in 10 patients with generalised epilepsy from the China Epilepsy Gene 1.0 Project. The gene-disease association was supported by an excess of variants, genotype-phenotype correlation, and data from spatial-temporal expression and single-cell […]
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Rare missense variants in FNDC1 are associated with severe adolescent idiopathic scoliosis
Scoliosis is the most common pediatric spinal deformity. Adolescent idiopathic scoliosis (AIS) comprises more than 80% of scoliosis and is influenced by genetic factors. Exome sequencing from 1,221 individuals with severe AIS (spinal curvatures ≥ 35 degrees) revealed aggregation of rare variants in several genes, including RAF1 (Noonan Syndrome), FBN1 (Marfan syndrome), and FNDC1 (previously […]
Phenotypic heterogeneity in DYNC2H1-related short-rib thoracic dysplasia: antenatal indicators and postnatal outcomes
DYNC2H1-related Short Rib Thoracic Dysplasia (SRTD) is a rare genetic, bone dysplasia characterised by narrow chest, short ribs, short long bones and extra fingers (polydactyly). Currently, there is limited information regarding correlations between the genetic fault, antenatal scan findings, and clinical presentation e.g., respiratory distress and prognosis. Our multi-centre study investigated nine patients with confirmed […]
Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study
Genome sequencing identifies the genetic origin of autism in ~20% individuals having a diagnosis. Knowing the genetic factors involved can end long diagnostic ‘odysseys’ seeking causation and as well help doctors tailor care and test for other health conditions. Some families choose not to pursue testing, possibly due to a lack of real-life examples of […]
Very early-onset symptomatic CNS hemangioblastoma in Von Hippel Lindau disease
Von Hippel-Lindau (VHL) disease is a rare genetic condition than can lead to the development of various tumors and cysts in the body, with brain and spinal hemangioblastomas (benign tumors caused by abnormal blood vessel growth) being the most common. Early diagnosis through genetic testing and regular check-ups is important to prevent serious complications, such […]
Analysing tumours for genetic diagnosis in mosaic neurofibromatosis type 1
Neurofibromatosis type 1 (NF1) is a genetic disorder characterised by a range of mostly benign tumours, including cutaneous neurofibromas. In many cases, the pathogenic variants in the NF1 gene arise de novo, meaning they are not inherited. In some instances, these variants are present only in a subset of cells, a condition known as genetic […]
STIM1 in-frame deletion of eight amino acids in a patient with moderate tubular aggregate myopathy/Stormorken syndrome
Tubular aggregate myopathy (TAM) and Stormorken syndrome (STRMK) are overlapping disorders affecting muscle, bones, spleen, and platelets. TAM/STRMK is caused by missense mutations in STIM1 and ORAI1, encoding key effectors of calcium homeostasis. Here we describe the first in-frame deletion in STIM1. Functional experiments in the cell model demonstrated that the deletion of 8 amino […]
Unraveling genotype-phenotype correlations in SLC29A3-related Syndromes
SLC29A3-related syndromes are ultrarare genetic disorders that can cause immune dysfunction, skin abnormalities, and other systemic symptoms. Our study identified new genetic mutations in affected individuals, revealing a possible ancestral link among certain cases. Using advanced computational methods, we examined how these mutations disrupt protein structure and function. We also found that these genetic changes […]
Intrinsic limitations of genomics to predict and treat autism a disorder born in the womb
Autism is not “simply” a genetic disorder because i) the mathematical equation used in genomics is flawed with inadequate estimations of essential parameters (GWAS and twin studies) ii) The fact that Autism is born in the Womb completely modifies the investigations needed to understand and treat it. Analyzing by Machine learning non-genetic data in French […]
Canadian consensus for the assessment and testing of Lynch syndrome
Lynch syndrome (LS) is the most common cause of hereditary colon cancer and has a high risk of endometrial and other cancers. LS is caused by an inherited mutation in one of five genes. Due to the many LS cancer types and the number of genes involved, diagnosing and supporting people with LS is complex, […]