Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Imprinting disorders: Beckwith–Wiedemann, Silver–Russell, and Prader-Willi syndromes in Egyptian patients

ABSTRACT: imprinting disorders: Beckwith–Wiedemann, Silver–Russell, and Prader-Willi syndromes in Egyptian patients

PROVIDER: PRJNA1186958 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Similar Datasets

imprinting disorders: Beckwith–Wiedemann, Silver–Russell, and Prader-Willi syndromes in Egyptian patients

Project description:19 patients with syndromic ImpDis were 8 clinically diagnosed with Silver-Russell syndrome (SRS), 7 with Prader-Willi syndrome (PWS), and 4 with Beckwith-Wiedemann syndrome (BWS).array chromosomal microarray (CMA) was performed for 12 patients

2025-03-15 | GSE282080 | GEO

Multi-omic Investigation of Beckwith-Wiedemann Syndrome Hepatoblasto

Project description:Multi-omic Investigation of Beckwith-Wiedemann Syndrome Hepatoblasto

| PRJNA764786 | ENA

Multi-omic Investigation of Beckwith-Wiedemann Syndrome Hepatoblasto

Project description:Multi-omic Investigation of Beckwith-Wiedemann Syndrome Hepatoblasto

| PRJNA764785 | ENA

Multi-omic Investigation of Beckwith-Wiedemann Syndrome Wilms Tumor

Project description:Multi-omic Investigation of Beckwith-Wiedemann Syndrome Wilms Tumor

| PRJNA798493 | ENA

Multi-omic Investigation of Beckwith-Wiedemann Syndrome Wilms Tumor

Project description:Multi-omic Investigation of Beckwith-Wiedemann Syndrome Wilms Tumor

| PRJNA798492 | ENA

Co-occurrence of Beckwith–Wiedemann Syndrome and colorectal cancer in a young woman

Project description:Beckwith-Wiedemann Spectrum (BWSp) is a disorder predisposing to tumors of embryonic origin that arise during childhood. Little is known concerning the tumor risk and histotype prevalence in adult BWSp patients. However, several studies report cases of co-occurrence of BWSp and tumors in early adulthood, suggesting that the cancer risk in BWSp could be relevant also later than childhood. Here, we report for the first time a case of co-occurrence of BWSp and early-onset colorectal cancer (EO-CRC). The results disclosed genetic and epigenetic molecular lesions of the patient at both somatic and germline levels, providing support to the hypothesis that epigenetic changes contribute to cancer initiation in tissues where a genetic insult is already present, acting in a cooperative manner to stimulate tumorigenesis.

2023-04-01 | GSE224222 | GEO

Uncovering the phenotypic consequences of multi-locus imprinting disturbances using genome-wide methylation analysis in genomic imprinting disorders

Project description:Genome wide DNA methylation analysis using blood leukocyte DNA was performed on 15 patients with genomic imprinting disorders (13 Beckwith–Wiedemann syndrome [BWS], two Silver–Russell syndrome [SRS]), and four controls. The Illumina HumanMethylation850 BeadChip was used to obtain DNA methylation profiles at a more than 850,000 CpGs.

2023-08-23 | GSE237503 | GEO

Prader-Willi Syndrome Microbiota

Project description:Prader-Willi Syndrome Microbiota Targeted loci environmental

| PRJNA669563 | ENA

Co-occurrence of Beckwith-Wiedemann syndrome and Pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism?

Project description:Imprinting disorders are congenital diseases caused by dysregulation of genomic imprinting, affecting growth, neurocognitive development, metabolism and cancer predisposition. Overlapping clinical features are often observed among this group of diseases. In rare cases, two fully expressed imprinting disorders may coexist in the same patient. A dozen cases of this type have been reported so far. Most of them are represented by individuals affected by Beckwith-Wiedemann spectrum (BWSp) and Transient Neonatal Diabetes Mellitus (TNDM) or BWSp and Pseudo-hypoparathyroidism type 1B (PHP1B). All these patients displayed multilocus imprinting disturbances (MLID). Here, we report the first case of co-occurrence of BWS and PHP1B in the same individual in absence of MLID. Genome-wide methylation and SNP-array analyses demonstrated loss of methylation of the KCNQ1OT1:TSS-DMR on chromosome 11p15.5 as molecular cause of BWSp, and upd(20)pat as cause of PHP1B. The absence of MLID and the heterodisomy of chromosome 20 suggests that BWSp and PHP1B arose through distinct and independent mechanism in our patient.

2023-08-01 | GSE237676 | GEO

Altered microRNA expression profiles in large offspring syndrome and Beckwith-Wiedemann syndrome

Project description:Altered microRNA expression profiles in large offspring syndrome and Beckwith-Wiedemann syndrome

| PRJNA526557 | ENA