A5040887387- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Chromosomal and Genetic Variations
- Prenatal Screening and Diagnostics
- RNA modifications and cancer
- Chromatin Remodeling and Cancer
- Congenital Ear and Nasal Anomalies
- Fetal and Pediatric Neurological Disorders
- Autism Spectrum Disorder Research
- Neurogenetic and Muscular Disorders Research
- Protein Tyrosine Phosphatases
- Ocular Disorders and Treatments
- Tracheal and airway disorders
- Congenital Heart Disease Studies
- Glycosylation and Glycoproteins Research
- Genetic factors in colorectal cancer
- Williams Syndrome Research
- Genetic Syndromes and Imprinting
- Congenital Diaphragmatic Hernia Studies
- Galectins and Cancer Biology
- Urological Disorders and Treatments
- Hereditary Neurological Disorders
- Genetic and Kidney Cyst Diseases
Bambino Gesù Children's Hospital
2016-2024
Istituti di Ricovero e Cura a Carattere Scientifico
2011-2024
Laboratoire de Génétique Médicale
2018
Laboratory of Molecular Genetics
2018
Casa Sollievo della Sofferenza
2010-2015
Sapienza University of Rome
2013
Thomas Jefferson University
2009
Sidney Kimmel Cancer Center
2009
We performed whole-exome sequencing of a family with autosomal dominant Dandy-Walker malformation and occipital cephaloceles detected mutation in the extracellular matrix (ECM) protein-encoding gene NID1. In second family, protein interaction network analysis identified LAMC1, which encodes NID1-binding partner. Structural modeling NID1-LAMC1 complex demonstrated that each disrupts interaction. These findings implicate ECM pathogenesis spectrum disorders.
Abstract Pontine Tegmental Cap Dysplasia (PTCD) is a recently described, rare disorder characterized by peculiar cerebellar and brainstem malformation. Nineteen patients have been reported to date, of which only one in the adolescent age, data on clinical, cognitive behavioural outcome this syndrome are scarce. Here we describe three with PTCD. All presented bilateral deafness multiple cranial neuropathies, variably associated skeletal, cardiac gastro-intestinal malformations. Feeding...
We collect the nasopharyngeal and oropharyngeal swabs of 63 subjects with severe symptoms or contacts COVID-19 confirmed cases to perform a pilot-study aimed verify "in situ" expression SARS-CoV-2 host invasion genes (ACE2, TMPRSS2, PCSK3, EMILIN1, EMILIN2, MMRN1, MMRN2, DPP4). ACE2 (FC = +1.88, p ≤ 0.05) DPP4 +3, < 0.01) showed significant overexpression in patients. levels had good performance (AUC 0.75; 0.001) distinguishing patients from negative subjects. Interestingly, we found...
The translocation of the testis-determining factor, SRY gene, from Y to X chromosome is a rare event that causes abnormalities in gonadal development. In all cases males and females carrying this translocation, disorder sex development reported. our study, we described peculiar pedigree with first evidence four healthy three generations who are carriers newly identified t(X;Y)(q28;p11.2)(SRY+) no ambiguous genitalia or other SRY-dependent alterations. Our study was consequence Non-Invasive...
To identify whether parent-of-origin effects (POE) of the 15q11.2 BP1-BP2 microdeletion are associated with differences in clinical features individuals inheriting deletion, we collected 71 reported phenotypic data and known inheritance from a cohort, research DECIPHER database, primary literature. Chi-squared Mann-Whitney U tests were used to test for specific grouped symptoms based on parental proband gender. Analyses controlled sibling sets additional variants uncertain significance...
Oculo auriculo vertebral spectrum (OAVS; OMIM 164210) is a clinically and genetically heterogeneous disorder originating from an abnormal development of the first second branchial arches. Main clinical characteristics include defects aural, oral, mandibular, development. Anomalies cardiac, pulmonary, renal, skeletal, central nervous systems have also been described. We report on 25‐year‐old male showing manifestations fitting OAVS diagnosis: hemifacial microsomia, asymmetric mandibular...
Recurrent deletions and duplications at the 2q13 locus have been associated with developmental delay (DD) dysmorphisms. We aimed to undertake detailed clinical characterization of individuals copy number variations (CNVs), a focus on behavioral psychiatric phenotypes. Participants were recruited via Unique chromosomal disorder support group, U.K. National Health Service Regional Genetics Centres, DatabasE genomiC varIation Phenotype in Humans using Ensembl Resources (DECIPHER) database. A...
Abstract Defects in the TUSC3 gene have been identified individuals with nonsyndromic autosomal recessive intellectual disability (ARID), due to either point mutations or intragenic deletions. We report on a boy homozygous microdeletion 8p22, sizing 203 kb, encompassing first exon of gene, detected by SNP‐array analysis (Human Gene Chip 6.0; Affymetrix). Both nonconsanguineous parents come from small Sicilian village and were heterozygous carriers microdeletion. The propositus had few...
Abstract Background The Dandy-Walker malformation (DWM) is one of the commonest congenital cerebellar defects, and can be associated with multiple anomalies chromosomal syndromes. occurrence overlapping 3q deletions including ZIC1 ZIC4 genes in few patients, along data from mouse models, have implicated both pathogenesis DWM. Methods results Using a SNP-array approach, we recently identified three novel patients carrying heterozygous encompassing . Magnetic resonance imaging showed that only...
We report on a patient with mild mental retardation, prenatal onset growth cerebellar hypoplasia, and complex heart defect including: interventricular septal defect, patent foramen ovale, aortic coarctation, tricuspid valve insufficiency, mitral stenosis, minor skeletal anomalies hypo-aplasia of the distal phalanges. A SNP-array analysis detected de novo duplication 17q23.2, encompassing TBX2 gene. Animal models argue for key role Tbx2 during cardiac limb development. Accordingly, we...
Abstract Biallelic loss‐of‐function variants in the thrombospondin‐type laminin G domain and epilepsy‐associated repeats ( TSPEAR ) gene have recently been associated with ectodermal dysplasia hearing loss. The first reports describing a disease association identified this is cause of nonsyndromic loss, but subsequent involving additional affected families questioned evidence suggested stronger dysplasia. To clarify genotype–phenotype associations for variants, we characterized 13...
Neurofibromatosis type 1 is an autosomal-dominant condition caused by NF1 gene inactivation. Clinical diagnosis corroborated genetic tests on gDNA and cDNA, which are inconclusive in approximately 3–5% of cases. Genomic DNA approaches may overlook splicing-affecting intronic variants structural rearrangements, especially regions enriched repetitive sequences. On the other hand, while cDNA-based methods provide direct information about effect a variant transcription, they hampered...
Abstract Williams–Beurens syndrome (WBS) is a rare genetic disorder caused by recurrent 7q11.23 microdeletion. Clinical characteristics include typical facial dysmorphisms, weakness of connective tissue, short stature, mild to moderate intellectual disability and distinct behavioral phenotype. Cardiovascular diseases are common due haploinsufficiency ELN gene. A few cases larger or smaller deletions have been reported spanning towards the centromeric telomeric regions, most which included We...
Abstract Cornelia de Lange syndrome (CdLS) is a genetically and clinical heterogeneous condition characterized by congenital malformation, intellectual disability, peculiar dysmorphic features. Recently, BRD4 (19p13.12) was proposed as new critical gene associated with mild CdLS because of similar presentation the patients carrying point mutations its involvement in NIPBL pathway. Patients harboring 19p interstitial deletion shared some physical features mutation carriers, which results more...
Interstitial deletions involving 6q chromosomal region are rare. Less than 30 patients have been described to date, and fewer characterized by high-resolution techniques, such as microarray. Deletions 6q21q22.1 associated with an extremely wide heterogeneous clinical spectrum, thus genotype–phenotype correlation based on the size of rearranged involved genes is complex, even among individuals overlapping deletions. Here we describe phenotypic molecular characterization a new interstitial...