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 […]
Latest articles
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, […]
Advancing Molecular Diagnosis in Rare Skeletal Muscle Diseases
Analyzing patient genetic data can be time-consuming, often requiring hours of work with no conclusive results—especially in complex and rare cases. Our study explores gene prioritization with Exomiser to improve variant analysis in a cohort of unsolved cases lacking relative data for variant segregation. By benchmarking its accuracy, we confirmed its effectiveness in identifying causative […]
Enhancing clinical decision-making for CNVs of uncertain significance in neurodevelopmental disorders: the relevance (or uselessness) of scoring and segregating
One of the most common cause of neurodevelopmental disorders (NDDs) are genetic variants that correspond to gains or losses genetic material. Not all of these variants cause a disorder, and several have an uncertain clinical impact. These uncertain changes are a challenge for doctors to interpret, and they usually look for the same variants in […]
Neurodevelopmental delay, musculoskeletal disorders and dysmorphia associated with a novel pathogenic interstitial deletion of chromosome 10q21.1q21.3
Most reported chromosome 10q deletions occur in the distal region. This case series describes three unrelated patients with a rare 10q21.1q21.3 deletion linked to neurodevelopmental delays, musculoskeletal disorders, and distinct facial features. Key genes in the deleted region, ANK3, BICC1, and TFAM, are critical for brain development, kidney function, and skeletal formation, respectively. We summarized […]