Publications by authors named "Lucia P Bruno"
Introduction: Rare diseases (RDs) collectively impact over 30 million people in Europe. Most individual conditions have a low prevalence which has resulted in a lack of research and expertise in this field, especially regarding genetic newborn screening (gNBS). There is increasing recognition of the importance of incorporating patients' needs and general public perspectives into the shared decision-making process regarding gNBS.
View Article and Find Full Text PDFPurpose: Coffin-Siris and Nicolaides-Baraitser syndromes are recognizable neurodevelopmental disorders caused by germline variants in BAF complex subunits. The SMARCC2 BAFopathy was recently reported. Herein, we present clinical and molecular data on a large cohort.
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- Haploinsufficiency of the TRIP12 gene causes Clark-Baraitser syndrome, a neurodevelopmental disorder featuring intellectual disability, epilepsy, autism spectrum disorder, and distinct facial features.
- The study analyzed 38 individuals with TRIP12 variants, identifying 35 different genetic mutations and observing global developmental delays, language deficits, and associated autistic traits in about half of the cases.
- Facial features characteristic of the syndrome were detailed using deep-learning algorithms, revealing traits such as deep-set eyes, downturned mouths, and prominent ears, which can aid in better counseling and management of affected individuals.
Article Synopsis
- The study identifies a new autosomal dominant disorder linked to loss-of-function variants in the CAPRIN1 gene, which plays a role in neuronal mRNA transport and translation, affecting cognitive and developmental functions.
- Out of 12 cases studied, patients exhibited a range of neurodevelopmental issues, including language impairments, intellectual disabilities, ADHD, and autism, along with various physical health problems.
- Using CRISPR-Cas9 technology, the researchers created CAPRIN1 deficient stem cells, finding that the loss of this gene leads to disrupted neuronal organization, reduced neuronal function, and impaired calcium signaling, suggesting significant impacts on brain development and function.
Article Synopsis
- - KBG syndrome (KBGS) is marked by unique facial features, short stature, and varied clinical symptoms, with a significant portion of individuals experiencing intellectual disability and epilepsy.
- - A recent European study examined 49 KBGS patients using advanced genetic testing to understand the syndrome better, revealing common traits like dental anomalies and skeletal issues alongside neurological concerns.
- - The findings suggest that clinicians should be aware of a broader range of symptoms, especially dental and palatal abnormalities, and include specific genetic testing for more accurate diagnosis and management of KBGS.
Whole exome sequencing has provided significant opportunities to discover novel candidate genes for intellectual disability and autism spectrum disorders. Variants in the spectrin genes , and have been associated with neurological disorders; however, gene-variants have not been associated with any human disorder. This is the first report that associates gene variants (ENSG00000137877: c.
View Article and Find Full Text PDFIntellectual disability (ID) is characterized by impairments in the cognitive processes and in the tasks of daily life. It encompasses a clinically and genetically heterogeneous group of neurodevelopmental disorders often associated with autism spectrum disorder (ASD). Social and communication abilities are strongly compromised in ASD.
View Article and Find Full Text PDFIntellectual disability (ID) and autism spectrum disorder (ASD) belong to neurodevelopmental disorders and occur in ~1% of the general population. Due to disease heterogeneity, identifying the etiology of ID and ASD remains challenging. Exome sequencing (ES) offers the opportunity to rapidly identify variants associated with these two entities that often co-exist.
View Article and Find Full Text PDFHereditary Breast and Ovarian Cancer (HBOC) syndrome is a condition in which the risk of breast and ovarian cancer is higher than in the general population. The prevalent pathogenesis is attributable to inactivating variants of the highly penetrant genes, however, other cancer susceptibility genes may also be involved. By Exome Sequencing (WES) we analyzed a series of 200 individuals selected for genetic testing in genes according to the updated National Comprehensive Cancer Network (NCCN) guidelines.
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