22q11.2 deletion syndrome is recognized as the second most common genetic cause of congenital heart defects. While congenital heart abnormalities are common among individuals with 22q11.2 deletion syndrome, exact prevalence figures remain unclear. We conducted a meta-analysis of prevalence. Elevated prevalence rates were found for tetralogy of Fallot (20%) ventricular septal defect (14%) pulmonary atresia […]
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Biallelic loss-of-function variants in C19orf44 lead to retinal degeneration
Inherited retinal diseases (IRDs) are genetic conditions that cause progressive vision loss. Many cases remain unsolved due to unidentified genetic causes. In this study, researchers used advanced genetic testing and eye imaging to investigate such cases and discovered diseasecausing variants in a previously unlinked gene, C19orf44. This gene has not been associated with any disease […]
‘Knowing and Treating Kosaki/Penttinen syndrome’ international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitors
Kosaki and Penttinen syndromes are extremely rare genetic conditions that cause serious problems in multiple organs, including the brain, bones, and blood vessels. Since 2019, an international team of doctors and researchers has been working together to better understand and treat these conditions. They have created shared care guidelines, a global patient database, and are […]
Biallelic pathogenic TULP3 variants presenting as neonatal cholestasis, liver fibrosis and neurological manifestations
Two Chinese children, who showed liver and neurological involvement prior to adolescence, were found to have compound heterozygous (a null and a missense) variants of TULP3. It was demonstrated that both missense variants in TULP3 could disrupt ciliogenesis or cilia function by eliminating the normal expression or localization of ciliary proteins. One patient presented with […]
AUTS2 disruption underlies radioulnar synostosis and skeletal dysmorphogenesis: evidence from four unrelated cases
AUTS2 was already known to influence brain development. Our study uncovers a crucial link between disruptions in the AUTS2 gene and a rare skeletal disorder characterized by fused forearm bones (radioulnar synostosis, RUS), where the radius and ulna fail to separate properly. By studying four unrelated patients, we identified different genetic alterations in AUTS2, all […]
Commentary on UBTF haploinsufficiency associated with UBTF-related global developmental delay and distinctive facial features without neuroregression
We describe the clinical and genetic features of 4 additional cases with single nucleotide variants in UBTF predicted to induce haploinsufficiency and a large deletion encompassing UBTF. Two of these individuals are adult confirming the lack of neuroregression associated with haploinsufficiency of UBTF in contrast to childhood-onset neurodegeneration with brain atrophy (CONDBA) caused by the […]
Evaluation of whole-body MRI for cancer early detection in Li-Fraumeni syndrome
Li-Fraumeni syndrome (LFS) is associated with a high lifetime cancer risk, particularly sarcoma, breast cancer and glioblastoma. Current cancer early detection strategies in adults are annual Magnetic Resonance (MR) whole-body and brain imaging. Here we report our single-centre experience in 75 adults over 12 years. WB-MRI detected 9 out of 17 cancers diagnosed throughout the […]
Investigating the use of a patient-facing digital app to support Lynch syndrome carriers in the management of their condition
In an increasingly digital and molecular world, it can be difficult for patients to navigate healthcare systems and keep up to date with research opportunities and changing management guidelines. In our shared partnership with Lynch Syndrome UK, we have identified what is important for Lynch syndrome carriers at risk of familial cancer. We have used […]
Biallelic pathogenic TULP3 variants presenting as neonatal cholestasis, liver fibrosis and neurological manifestations
Two Chinese children, who showed liver and neurological involvement prior to adolescence, were found to have compound heterozygous (a null and a missense) variants of TULP3. It was demonstrated that both missense variants in TULP3 could disrupt ciliogenesis or cilia function by eliminating the normal expression or localization of ciliary proteins. One patient presented with […]
New variants and genotype–phenotype correlation in KIF5A mutation: the contribution of a large Italian cohort
This study investigates changes in the KIF5A gene, which plays a key role in moving materials within nerve cells. Mutations in this gene can lead to neurological diseases like hereditary spastic paraplegia (HSP), Charcot-Marie-Tooth disease (CMT2), and amyotrophic lateral sclerosis (ALS). By analyzing 390 Italian patients, the researchers found five individuals with harmful KIF5A mutations. […]