A5057014058- Cystic Fibrosis Research Advances
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Neonatal Respiratory Health Research
- Congenital heart defects research
- Tracheal and airway disorders
- Congenital Ear and Nasal Anomalies
- Genomics and Rare Diseases
- Chromatin Remodeling and Cancer
- RNA regulation and disease
- Ion channel regulation and function
- Advanced biosensing and bioanalysis techniques
- Glycosylation and Glycoproteins Research
- Congenital gastrointestinal and neural anomalies
- Renal and related cancers
- Vascular Malformations and Hemangiomas
- Digestive system and related health
- RNA and protein synthesis mechanisms
- Neurofibromatosis and Schwannoma Cases
- Tuberculosis Research and Epidemiology
- Cleft Lip and Palate Research
- Genetic and Kidney Cyst Diseases
- Gastrointestinal motility and disorders
- Childhood Cancer Survivors' Quality of Life
- Biochemical and Molecular Research
Istituto Giannina Gaslini
2011-2025
Istituti di Ricovero e Cura a Carattere Scientifico
2020-2022
Abstract Background terminal deletions of the distal portion short arm chromosome 3 cause a rare contiguous gene disorder characterized by growth retardation, developmental delay, mental dysmorphisms, microcephaly and ptosis. The phenotype individuals with varies from normal to severe. It was suggested that 1,5 Mb minimal deletion including two genes CRBN CNTN4 is sufficient syndrome. In addition CHL1 gene, mapping at 3p26.3 distally , proposed as candidate for non specific retardation...
Earlier analysis of the Italian population showed patterns genetic differentiation that were interpreted as being result settlements going back to pre-Roman times. DNA disease mutations may be a powerful tool in further testing this hypothesis since diseased individuals can detect variants too rare resolved normal individuals. We present data on relative frequencies 60 cystic fibrosis (CF) Italy and geographical distribution 12 most frequent CF screened 3492 chromosomes originating 13...
The deltaF508 mutation accounts for about 53% of the molecular defects causing cystic fibrosis (CF) in Italy. numerous additional mutations detected so far are all relatively rare, and 30% CF chromosomes carries unknown our patients. In order to identify non-deltaF508 population, we performed GC-clamped denaturing gradient gel electrophoresis (DGGE) on 9 exons transmembrane conductance regulator (CFTR) gene a sample 86 Italian patients carrying at least one chromosome. Direct sequencing 17...
Neurodevelopmental disorders (NDDs) are a heterogeneous class of brain diseases, with complex genetic basis estimated to account for up 50% cases. Nevertheless, diagnostic yield is about 20%. Array-comparative genomic hybridization (array-CGH) an established first-level test able detect pathogenic copy number variants (CNVs), however, most identified remain uncertain significance (VUS). Failure interpretation VUSs may depend on various factors, including complexity clinical phenotypes and...
Interstitial 1p deletions are rare events. Very few cases of 1p31.1p31.3 characterized by variable phenotypes have been reported. No clear genotype-phenotype correlation has determined yet. We present a child with de novo interstitial deletion, identified array CGH, associated intellectual disability and severe language impairment. The deleted region contains 20 OMIM genes, but we focused on GADD45A (MIM 126335; growth arrest- DNA damage-inducible gene), LRRC7 614453; leucine-rich...
Submicroscopic chromosomal alterations usually involve different protein-coding genes and regulatory elements that are responsible for rare contiguous gene disorders, which complicate the understanding of genotype-phenotype correlations. Chromosome band 3p26.3 contains 3 encoding neuronal cell adhesion molecules: <i>CHL1</i>, <i>CNTN6</i>, <i>CNTN4</i>. We describe 2 boys aged 8 years 11 mainly affected by intellectual disability autism spectrum disorder,...
Ring chromosome 2 is a rare constitutional abnormality that generally occurs de novo. About 14 cases have been described to date, but the vast majority of papers report exclusively conventional cytogenetic investigations and only two characterized by array-CGH. Here we describe clinical, neuroradiological, molecular features 5-year-old boy harbouring ring presenting with severe growth failure, facial bone dysmorphisms, microcephaly, renal malformation. Brain MR diffusion tensor imaging...
Interstitial deletions of chromosome bands 14q24.1q24.3 are very rare with only three reported cases.We describe a 7-year-old boy 5.345 Mb de novo interstitial deletion at band detected by array-CGH who had complex phenotype characterized seizures, congenital heart defects, dysmorphisms, psychomotor delay, and bronchopulmonary, skeletal, brain anomalies.The deleted region contains numerous genes, but we focused our attention on them (C14orf169, NUMB, PSEN1), which could account, least...