Matteo Della Monica
A5065150931- Genomic variations and chromosomal abnormalities
- SARS-CoV-2 and COVID-19 Research
- Genomics and Rare Diseases
- COVID-19 Clinical Research Studies
- Prenatal Screening and Diagnostics
- Congenital limb and hand anomalies
- Genetics and Neurodevelopmental Disorders
- Genetic Syndromes and Imprinting
- Neurogenetic and Muscular Disorders Research
- Congenital Diaphragmatic Hernia Studies
- Congenital heart defects research
- Congenital gastrointestinal and neural anomalies
- Chromatin Remodeling and Cancer
- Chromosomal and Genetic Variations
- Viral-associated cancers and disorders
- Genomics and Chromatin Dynamics
- interferon and immune responses
- Respiratory viral infections research
- Urological Disorders and Treatments
- Hearing, Cochlea, Tinnitus, Genetics
- Connective tissue disorders research
- Neuroscience of respiration and sleep
- Neonatal Respiratory Health Research
- PARP inhibition in cancer therapy
- RNA regulation and disease
Ospedale Antonio Cardarelli
1988-2024
University of Siena
2023
Fatebenefratelli Hospital
2023
University of Padua
2023
Saint Michael's Medical Center
2021
Casa Sollievo della Sofferenza
2021
University of Naples Federico II
2021
Laboratory of Molecular Genetics
2021
Laboratoire de Génétique Médicale
2021
University of California, San Diego
2021
Non-syndromic neurosensory autosomal recessive deafness (NSRD) is the most common form of genetic hearing loss. Previous studies defined at least 15 human NSRD loci. Recently we demonstrated that DFNB1, located on long arm chromosome 13, accounts for ∼ 80% cases in Mediterranean area. Further analysis with additional markers now identifies several recombinants which narrow candidate region to ∼5 cM, encompassed by D13S141 and D13S232 including ESTs genes, connexin26 (GJB2) gene. Analysis PCR...
Abstract In December 2019, an initial cluster of interstitial bilateral pneumonia emerged in Wuhan, China. A human-to-human transmission was assumed and a previously unrecognized entity, termed coronavirus disease-19 (COVID-19) due to novel (SARS-CoV-2) described. The infection has rapidly spread out all over the world Italy been first European country experiencing endemic wave with unexpected clinical severity comparison Asian countries. It shown that SARS-CoV-2 utilizes angiotensin...
Background: Recently, loss-of-function variants in TLR7 were identified two families which COVID-19 segregates like an X-linked recessive disorder environmentally conditioned by SARS-CoV-2. We investigated whether the represent tip of iceberg a subset male patients. Methods: This is nested case-control study we compared participants with extreme phenotype selected from Italian GEN-COVID cohort SARS-CoV-2-infected (<60 y, 79 severe cases versus 77 control cases). applied LASSO Logistic...
Rare copy number variants (CNVs) disrupting ASTN2 or both and TRIM32 have been reported at 9q33.1 by genome-wide studies in a few individuals with neurodevelopmental disorders (NDDs). The vertebrate-specific astrotactins, its paralog ASTN1, key roles glial-guided neuronal migration during brain development. To determine the prevalence of astrotactin mutations delineate their associated phenotypic spectrum, we screened ASTN2/TRIM32 ASTN1 (1q25.2) for exonic CNVs clinical microarray data from...
Abstract Toll-like receptors (TLR) are crucial components in the initiation of innate immune responses to a variety pathogens, triggering production pro-inflammatory cytokines and type I II interferons, which responsible for antiviral responses. Among different TLRs, TLR7 recognizes several single-stranded RNA viruses including SARS-CoV-2. We others identified rare loss-of-function variants X-chromosomal young men with severe COVID-19 no prior history major chronic diseases, that were...
Abstract Background Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare, multiple congenital anomalies/mental retardation characterized by peculiar face, short stature, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies, immunological defects. Recently mutations in the histone methyl transferase MLL2 gene have been identified as its underlying cause. Methods Genomic DNAs were extracted from 62 index patients clinically diagnosed affected syndrome. Sanger sequencing was...
Kabuki syndrome (KS) is a multiple congenital anomalies characterized by characteristic facial features and varying degrees of mental retardation, caused mutations in KMT2D/MLL2 KDM6A/UTX genes. In this study, we performed mutational screening on 303 patients direct sequencing, MLPA, quantitative PCR identifying 133 KMT2D, 62 never described before, four KDM6A mutations, three them are novel. We found that number KMT2D truncating result mRNA degradation through the nonsense-mediated decay,...
Rubinstein-Taybi syndrome (RSTS) is a rare congenital neurodevelopmental disorder characterized by postnatal growth deficiency, skeletal abnormalities, dysmorphic features and cognitive deficit. Mutations in two genes, CREBBP EP300, encoding homologous transcriptional co-activators, have been identified ˜55% ˜3-5% of affected individuals, respectively. To date, only eight EP300-mutated RSTS patients described 12 additional mutations are reported the database LOVD. In this study, EP300...
Postzygotic activating PIK3CA variants cause several phenotypes within the PIK3CA-related overgrowth spectrum (PROS). Variant strength, mosaicism level, specific tissue involvement and overlapping disorders are responsible for disease heterogeneity. We explored these factors in 150 novel patients an expanded cohort of 1007 PIK3CA-mutated patients, analysing our new data with previous literature to give a comprehensive picture.We performed ultradeep targeted next-generation sequencing (NGS)...
<h3>Background</h3> The 17q21.31 deletion syndrome phenotype can be caused by either chromosome deletions or point mutations in the <i>KANSL1</i> gene. To date, about 60 subjects with and 4 mutation have been reported. Prevalence of compared mutations, genotype–phenotype correlations phenotypic variability yet to fully clarified. <h3>Methods</h3> We report 27 novel 5 mutation<i>,</i> 3 whom were not previously <h3>Results</h3> prevalence was 83% 17%, respectively. All patients had similar...
Background: Acral Fibromyxoma (AFM) is a rare benign soft tissue tumour which described as fibromatous and myxoid of skin tissue. Case details: A 40-year-old male presented to the Dermatology outpatient department with swelling over wrist one year duration. The was associated mild pain, it gradually increased in size reach its present size. Cutaneous examination revealed 2x2 cm mobile, cystic firm, non-tender dorsum right wrist. Based on location clinical features, provisionally diagnosed...
Abstract Sotos syndrome is characterized by pre‐ and post‐natal overgrowth, typical craniofacial features, advanced bone age, developmental delay. Some degree of phenotypic overlap exists with other overgrowth syndromes, in particular Weaver syndrome. caused haploinsufficiency the NSD1 (nuclear receptor SET domain containing gene 1) gene. Microdeletions involving are major cause Japanese patients, whereas intragenic mutations more frequent nonJapanese patients. aberrations have also been...
Abstract Bohring–Opitz syndrome (BOS) is a rare condition characterized by facial anomalies, multiple malformations, failure to thrive and severe intellectual disabilities. Recently, the cause was identified on basis of de novo heterozygous mutations in ASXL1 gene. We report two novel cases carrying previously undescribed (c.2407_2411del5 [p.Q803TfsX17] c.2893C>T [p.R965X]). These new data further support as BOS may contribute more precise definition phenotype caused disruption this ©...
Diagnosis of pediatric intellectual disability (ID) can be difficult because it is due to a vast number established and novel causes. Here, we described full-term female infant affected by Kleefstra syndrome-2 presenting with neurodevelopmental disorder, history hypotonia minor face anomalies. A systematic literature review was also performed. The patient 6-year-old Caucasian female. In the family there no or genetic conditions. Auxological parameters at birth were adequate for gestational...
Genome-wide association studies (GWAS) found locus 3p21.31 associated with severe COVID-19. CCR5 resides at the same and, given its known biological role in other infection diseases, we investigated if common noncoding and rare coding variants, affecting CCR5, can predispose to We combined single nucleotide polymorphisms (SNPs) that met suggestive significance level (P ≤ 1 × 10-5) public GWAS datasets (6406 COVID-19 hospitalized patients 902,088 controls) gene expression data from 208 lung...
Abstract Background Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) is a novel coronavirus that caused an ongoing pandemic of pathology termed Disease 19 (COVID-19). Several studies reported both COVID-19 and RTEL1 variants are associated with shorter telomere length, but direct association between the two not generally acknowledged. Here we demonstrate up to 8.6% severe patients bear ultra-rare variants, show how this subgroup can be recognized. Methods A cohort 2246...
Mowat–Wilson syndrome (MWS) is characterized by moderate to severe intellectual disability and distinctive facial features in association with variable structural congenital anomalies/clinical including heart disease, Hirschsprung hypospadias, agenesis of the corpus callosum, short stature, epilepsy, microcephaly. Less common clinical include ocular anomalies, craniosynostosis, mild disability, choanal atresia. These cases may be more difficult diagnose. In this report, we add 28 MWS...