Clinical and Molecular Diagnosis of Beckwith-Wiedemann Syndrome with Single- or Multi-Locus Imprinting Disturbance.

doi:10.3390/ijms22073445

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Article

Clinical and Molecular Diagnosis of Beckwith-Wiedemann Syndrome with Single- or Multi-Locus Imprinting Disturbance.

International journal of molecular sciences - 26 Mar 2021

Fontana Laura, Tabano Silvia, Maitz Silvia, Colapietro Patrizia, Garzia Emanuele, Gerli Alberto Giovanni, Sirchia Silvia Maria, Miozzo Monica

Abstract excerpt

Beckwith-Wiedemann syndrome (BWS) is a clinically and genetically heterogeneous overgrowth disease. BWS is caused by (epi)genetic defects at the 11p15 chromosomal region, which harbors two clusters of imprinted genes, IGF2/H19 and CDKN1C/KCNQ1OT1, regulated by differential methylation of imprinting control regions, H19/IGF2:IG DMR and KCNQ1OT1:TSS DMR, respectively. A subset of BWS patients show multi-locus...

Topics

Beckwith-Wiedemann Syndrome
Cluster Analysis
Cyclin-Dependent Kinase Inhibitor p57
DNA Methylation
Epigenesis, Genetic
Female
Gene Silencing
Genetic Association Studies
Genomic Imprinting
Humans
Insulin-Like Growth Factor II
Male

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenotype

Potassium Channels, Voltage-Gated

Prenatal Diagnosis

Reproductive Techniques, Assisted

Twins, Monozygotic

X Chromosome Inactivation

Source

Open in PubMed Open full text

Identifiers

PMID: 33810554
DOI: 10.3390/ijms22073445
PMCID: PMC8036922

Provenance

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