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 […]
Latest articles
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 […]
Expanding the phenotypic spectrum of PROS: reclassifying isolated lateralized overgrowth
Identifying unaffected individuals at increased genetic risk of developing cancer allows them to access screening, prevention and early detection programmes. The National Institute for Health and Care Excellence (NICE) published NICE guideline “NG241: identifying and managing familial and genetic risk of ovarian cancer (OC)” in March 2024 recommending changes to germline genetic testing pathways across […]
Under-recognized neurocognitive deficits in adults and adolescents with Tuberous Sclerosis Complex
Tuberous sclerosis complex (TSC) is a genetic disease that is often associated with cognitive deficits, including intellectual disability. Screening for these deficits can be done by asking a patient and their caregiver to complete the TAND Checklist. Our study compared the use of this checklist with screening neurocognitive tests such as the Symbol Digit Modalities […]
PURA-related neurodevelopmental disorders: a systematic review on genotype-phenotype correlations
PURA-related neurodevelopmental disorders (PURA-NDDs), encompassing 5q31.3 deletion syndrome and PURA syndrome, are characterized by a constellation of symptoms such as hypotonia, severe global developmental delay, and seizures. This systematic review demonstrates that the clinical severity of PURA-NDDs is primarily associated with the extent of PUR-repeat disruption rather than the specific variant location. Notably, PURA variants […]
Advances in research on the mechanism of tsRNA action in tumours
At present, many studies have emphasized the importance of tsRNAs in tumors and revealed their important role in the biological processes of tumor cell proliferation, apoptosis, and metastasis. By systematically analyzing the production and biological function of tsRNAs in various tumors, we elucidate its mechanism of action in tumor occurrence and progression, and discuss their […]
A founder deletion involving BRCA1 in families of Nepalese origin: the perfect hiding place!
Deletions and duplications involving the BRCA1 gene can be found in a substantial proportion of families with inherited risk for breast and ovarian cancer. In this study, Pagnamenta et al identified two affected cousins from the 100,000 Genomes Project who shared a complex 178bp deletion in BRCA1. Due to its size and location, the deletion had escaped detection using multiple […]
Retrospective study on the utility of optical genome mapping as a follow-up method in genetic diagnostics
Genetic tests currently used in routine diagnostics are designed to detect almost all types of genetic aberrations that may cause disease. However, in some cases, aberrations can be detected, but remain partly unresolved: e.g., the detection of a large duplication often does not entail information on its point of insertion in the genome, which could […]
Aortic and Arterial Manifestations and Clinical Features in TGFB3-Related Heritable Thoracic Aortic Disease: Results from the Montalcino Aortic Consortium
This paper describes clinical features and aortic outcomes in patients with heritable thoracic aortic disease (HTAD) due to TGFB3 variants. Aortic dilation occurred in some but not all individuals, but aortic dissection (a tear in the aortic wall) occurred in very few patients and at older ages and at larger aortic diameters than in those […]
Unveiling non-coding DMD variants: synergising RNA sequencing and DNA sequencing for enhanced molecular diagnosis
By combining RNA sequencing with DNA analysis and immunohistochemistry , this study uncovered hidden pathogenic variants that traditional methods often miss for Duchenne and Becker muscular dystrophy (DMD/BMD) testing. Pan et al. identified splice-altering variants and complex DNA rearrangements in patients with unresolved DMD molecular diagnoses, enabling more precise detection of disease-causing changes. This innovative […]