A5037146088- Congenital heart defects research
- Congenital Heart Disease Studies
- Prenatal Screening and Diagnostics
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- RNA modifications and cancer
- Protein Tyrosine Phosphatases
- Coronary Artery Anomalies
- Genetic factors in colorectal cancer
- Neurogenetic and Muscular Disorders Research
- Genetics and Neurodevelopmental Disorders
- Fetal and Pediatric Neurological Disorders
- Genetic Syndromes and Imprinting
- Galectins and Cancer Biology
- Connective tissue disorders research
- Nutrition and Health in Aging
- Congenital Anomalies and Fetal Surgery
- Assisted Reproductive Technology and Twin Pregnancy
- Cardiovascular Issues in Pregnancy
- Nutritional Studies and Diet
- RNA Research and Splicing
- BRCA gene mutations in cancer
- Parvovirus B19 Infection Studies
- Trace Elements in Health
- RNA regulation and disease
Sapienza University of Rome
2016-2025
Policlinico Umberto I
2019-2025
Casa Sollievo della Sofferenza
2024
Fatebenefratelli Hospital
2022-2023
Agostino Gemelli University Polyclinic
2023
Washington Center
2022
ABSTRACT TBCK (TBC1 Domain‐Containing Kinase) encodes a protein playing role in actin organization and cell growth/proliferation via the mTOR signaling pathway. Deleterious biallelic variants cause Hypotonia, infantile, with psychomotor retardation characteristic facies 3. We report on three affected sibs, also displaying cardiac malformations. The parents, consanguineous couple of first cousins, were referred to schedule invasive diagnosis for their sixth pregnancy. They known carry...
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B . In some cases, GPS SBBYSS features can overlap, determining an intermediate phenotype. the present study, we describe seven patients, four with a clinical diagnosis of three presenting All patients carried de novo that were identified exome sequencing. Five novel. We provide both molecular...
SHOC2 is a scaffold protein mediating RAS-promoted activation of mitogen-activated kinase (MAPK) signaling in response to extracellular stimuli. A recurrent activating mutation (p.Ser2Gly) causes Mazzanti syndrome, RASopathy characterized by features resembling Noonan syndrome and distinctive ectodermal abnormalities. second (p.Met173Ile) supposed cause loss-of-function was more recently identified two individuals with milder phenotypes. Here, we report on the third RASopathy-causing...
Introduction and hypothesis Patients with 22q11 deletion syndrome (22q11.2DS) present, in about 75% of cases, typical patterns cardiac defects, a particular involvement on the ventricular outflow tract great arteries. However, this genetic condition dimensions pulmonary arteries (PAs) never were specifically evaluated. We measured both PAs diameter patients 22q11.2DS without comparing these data to normal control group. Moreover, we Tbx1 mutant mice. Finally, cell fate mapping mutants was...
Abstract Spinal muscular atrophy with congenital bone fractures 2 (SMABF2) is a rare autosomal recessive neuromuscular disorder characterized by arthrogryposis multiplex congenita and prenatal of the long bones, poor prognosis. The most affected patients present biallelic loss‐of‐function nucleotide variants in ASCC1 gene, coding subunit transcriptional coactivator ASC‐1 complex, although exact pathogenesis yet unknown. This work describes first case SMABF2 stillbirth documented evolution...
Mosaic genome-wide paternal uniparental disomy (GWpUPD) is a rare condition in which two euploid cell lines coexist the same individual, one with biparental content and isodisomy. We report complex prenatal diagnosis discordant results from cultured uncultured samples. A pregnant woman was referred for placental mesenchymal dysplasia fetal omphalocele. Karyotype, array-CGH Beckwith-Wiedemann Syndrome (BWS) testing (methylation-specific multiplex ligation-dependent probe amplification...
Germline pathogenic variants (PVs) in the Ataxia Telangiectasia mutated (ATM) gene (MIM* 607585) increase risk for breast, pancreatic, gastric, and prostatic cancer and, to a reduced extent, ovarian colon melanoma, with moderate penetrance variable expressivity. We describe family presenting early-onset gastric harboring heterozygous ATM variant. The proband had (age 45) reported sister deceased due diffuse 30) another who developed 52) serous cancer. Next generation sequencing...
Brain malformations have been reported in RASopathies, including postnatal external hydrocephalus, a nonobstructive form of cerebrospinal fluid accumulation around the brain. It was described few patients with mutations other genes than PTPN11, such as SOS1 and SHOC2 never prenatal diagnosis. The aim this case report is to describe presentation fetus Noonan syndrome (NS) hydrocephalus. We on de novo pathogenic PTPN11 c.923A>G p.Asn308Ser mutation, showing an extremely rare fetal finding,...