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 […]
Latest articles
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. […]
Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS
This study sheds new light on the long-term heart issues linked to Shprintzen-Goldberg syndrome (SGS), a rare connective tissue disorder in the same family as Marfan syndrome. Unlike previous literature with limited data, this analysis of 29 international patients reveals that nearly half develop mitral regurgitation, and over a third experience thoracic aortic aneurysms. Importantly, […]
Reproductive decision-making and pregnancy in germline CDH1 variant carriers
Diffuse gastric and lobular breast cancer (DGLBC) syndrome is an autosomal dominant disorder linked to pathogenic variants in the CDH1 gene. We performed a survey-based analysis of reproductive decision-making in 121 individuals with CDH1 variants, including 6 women who gave birth after prophylactic total gastrectomy (PTG). Approximately half of individuals reported that their CDH1 diagnosis […]
Integration of genetic counselling into a multidisciplinary urological oncology programme enhances access and detection of hereditary prostate cancer syndromes
Hereditary genetic testing can play a vital role in identifying cancer risks and informing care for individuals with prostate cancer and their families. This study evaluated the impact of integrating a dedicated genetic counselor into a multidisciplinary prostate cancer clinic. Following this change, referrals for genetic counseling and completion of genetic testing rose significantly. More […]