A5076402163- Genetic Syndromes and Imprinting
- Prenatal Screening and Diagnostics
- Epigenetics and DNA Methylation
- Genetics and Neurodevelopmental Disorders
- Digital Mental Health Interventions
- Opinion Dynamics and Social Influence
- Ubiquitin and proteasome pathways
- Online and Blended Learning
- Pancreatic function and diabetes
- Hedgehog Signaling Pathway Studies
- Mental Health Research Topics
- CRISPR and Genetic Engineering
- Educational and Social Studies
- Renal and related cancers
- Educational Tools and Methods
- Kruppel-like factors research
IRCCS Istituto Auxologico Italiano
2021-2024
Istituti di Ricovero e Cura a Carattere Scientifico
2021-2024
Abstract Beckwith–Wiedemann syndrome (BWS, OMIM # 130650) is an imprinting disorder, associated with overgrowth and increased risk of embryonal tumors. Patients carrying hypomethylation in the KCNQ1OT1 :TSS DMR (11p15.5) show MLID (Multilocus Imprinting Disturbance) upon epimutations at other imprinted regions. Few cases BWS MLID’s mothers biallelic pathogenetic variants maternal effect genes, mainly components subcortical complex, are reported. We describe two families, one a history...
Abstract Context Silver–Russell Syndrome (SRS) is a growth retardation disorder characterized by pre- and postnatal failure, relative macrocephaly at birth, prominent forehead, body asymmetry, feeding difficulties. The main molecular mechanisms are imprinting alterations multiple loci, though small number of pathogenic variants have been reported in the SRS genes IGF2-PLAG1-HMGA2 CDKN1C. However, around 40% clinically suspected cases do not achieve diagnosis, highlighting necessity to...
Rett syndrome caused by MECP2 variants is characterized a heterogenous clinical spectrum accounted for in 60% of cases hot-spot variants. Focusing on the most frequent variants, we generated vitro iPSC-neurons from blood RTT girls with p.Arg133Cys and p.Arg255*, associated to mild severe phenotype, respectively, an male harboring close p.Gly252Argfs*7 variant. Truncated MeCP2 proteins were revealed Western blot immunofluorescence analysis. We compared mutant versus control neurons at 42 days...
Silver Russell Syndrome (SRS, MIM #180860) is a rare growth retardation disorder in which clinical diagnosis based on six features: pre- and postnatal failure, relative macrocephaly, prominent forehead, body asymmetry, feeding difficulties (Netchine–Harbison scoring system (NH-CSS)). The molecular mechanisms consist (epi)genetic deregulations at multiple loci: the loss of methylation (LOM) paternal H19/IGF2:IG-DMR (chr11p15.5) (50%) maternal uniparental disomy chromosome 7 (UPD(7)mat) (10%)...
The amount of Insulin Growth Factor 2 (IGF2) controls the rate embryonal and postnatal growth. IGF2 adjacent H19 are imprinted genes telomeric cluster in 11p15 chromosomal region regulated by differentially methylated regions (DMRs) or imprinting centers (ICs): H19/IGF2:IG-DMR (IC1). Dysregulation due to IC1 Loss-of-Methylation (LoM) Gain-of-Methyaltion (GoM) causes Silver–Russell syndrome (SRS) Beckwith–Wiedemann (BWS) disorders associated with growth retardation overgrowth, respectively....