Lucia Pia Bruno
A5046673833- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- BRCA gene mutations in cancer
- Genomic variations and chromosomal abnormalities
- Genomics and Chromatin Dynamics
- Autism Spectrum Disorder Research
- Congenital heart defects research
- CRISPR and Genetic Engineering
- Chromatin Remodeling and Cancer
- Lysosomal Storage Disorders Research
- Genetic Syndromes and Imprinting
- Tumors and Oncological Cases
- RNA and protein synthesis mechanisms
- Developmental Biology and Gene Regulation
- Peptidase Inhibition and Analysis
- Genetic Neurodegenerative Diseases
- Metabolism and Genetic Disorders
- Ubiquitin and proteasome pathways
- Hedgehog Signaling Pathway Studies
- Mitochondrial Function and Pathology
- Genetics, Bioinformatics, and Biomedical Research
- DNA Repair Mechanisms
University of Siena
2021-2024
Telethon Institute Of Genetics And Medicine
2023-2024
Azienda Ospedaliera Universitaria Senese
2023
Intellectual disability (ID) is characterized by impairments in the cognitive processes and tasks of daily life. It encompasses a clinically genetically heterogeneous group neurodevelopmental disorders often associated with autism spectrum disorder (ASD). Social communication abilities are strongly compromised ASD. The prevalence ID/ASD 1–3%, approximately 30% patients remain without molecular diagnosis. Considering extreme genetic locus heterogeneity, next-generation sequencing approaches...
Abstract We describe an autosomal dominant disorder associated with loss-of-function variants in the Cell cycle protein 1 (CAPRIN1; MIM*601178). CAPRIN1 encodes a ubiquitous that regulates transport and translation of neuronal mRNAs critical for synaptic plasticity, as well encoding proteins important cell proliferation migration multiple types. identified 12 cases variants, neurodevelopmental phenotype characterized by language impairment/speech delay (100%), intellectual disability (83%),...
Intellectual disability (ID) and autism spectrum disorder (ASD) belong to neurodevelopmental disorders occur in ~1% of the general population. Due disease heterogeneity, identifying etiology ID ASD remains challenging. Exome sequencing (ES) offers opportunity rapidly identify variants associated with these two entities that often co-exist. Here, we performed ES a cohort 200 patients: 84 isolated 116 ASD. We identified 41 pathogenic detection rate 22% (43/200): 39% patients (33/84) 9% ID/ASD...
Abstract KBG syndrome (KBGS) is characterized by distinctive facial gestalt, short stature and variable clinical findings. With ageing, some features become more recognizable, allowing a differential diagnosis. We aimed to better characterize natural history of KBGS. In the context European collaborative study, we collected largest cohort KBGS patients (49). A combined array- based Comparative Genomic Hybridization next generation sequencing (NGS) approach investigated both genomic Copy...
Whole exome sequencing has provided significant opportunities to discover novel candidate genes for intellectual disability and autism spectrum disorders. Variants in the spectrin SPTAN1, SPTBN1, SPTBN2 , SPTBN4 have been associated with neurological disorders; however, SPTBN5 gene-variants not any human disorder. This is first report that associates gene variants (ENSG00000137877: c.266A>C; p.His89Pro, c.9784G>A; p.Glu3262Lys, c.933C>G; p.Tyr311Ter, c.8809A>T;...
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 molecular data on a large cohort.Clinical symptoms for 41 novel 24 previously published affected individuals were analyzed using the Human Phenotype Ontology. For genotype-phenotype correlations, standardized grouped into non-truncating likely gene-disrupting (LGD) variants....
Hereditary Breast and Ovarian Cancer (HBOC) syndrome is a condition in which the risk of breast ovarian cancer higher than general population. The prevalent pathogenesis attributable to inactivating variants
Introduction Rare diseases (RDs) collectively impact over 30 million people in Europe. Most individual conditions have a low prevalence which has resulted lack of research and expertise this field, especially regarding genetic newborn screening (gNBS). There is increasing recognition the importance incorporating patients’ needs general public perspectives into shared decision-making process gNBS. This study part Innovative Medicine Initiative project Screen4Care aims at shortening diagnostic...
ABSTRACT PURPOSE Coffin-Siris and Nicolaides-Baraitser syndromes, are recognisable neurodevelopmental disorders caused by germline variants in BAF complex subunits. The SMARCC2 BAFopathy was recently reported. Herein, we present clinical molecular data on a large cohort. METHODS Clinical symptoms for 41 novel 24 previously published cases were analyzed using the Human Phenotype Ontology. For genotype-phenotype correlation, standardized grouped into non-truncating likely gene-disrupting...