Epigenotype and phenotype correlations in patients with Beckwith-Wiedemann syndrome.
Bilgin B, Kabaçam S, Taşkıran E, Şimşek-Kiper PÖ, Alanay Y, Boduroğlu K, Utine GE. Epigenotype and phenotype correlations in patients with Beckwith-Wiedemann syndrome. Turk J Pediatr 2018; 60: 506-513. Beckwith-Wiedemann Syndrome (BWS) is one of the most common overgrowth syndromes. Cancer predisposition is an important feature of this clinically heterogeneous syndrome. Patients may have fetal and early childhood overgrowth, hemihyperplasia, macroglossia, facial dysmorphic features, abdominal wall defects, visceromegaly, and anomalies of the heart and the kidneys. Various previous investigations showed that heterogeneous molecular etiology may contribute to clinical variability and that epigenotype-phenotype correlations exist in BWS. This study was performed to detect the molecular etiology in 28 patients with BWS, to search for epigenotype-phenotype correlations and to provide appropriate individualized multidisciplinary approach. Four different molecular etiology groups were determined based on testing for copy number analysis and methylation status at 11p15. Sequencing for CDKN1C mutations were also performed. Groups were compared for various clinical findings. Differences between groups were not statistically significant owing to the small number of patients in individual groups. Statistical studies for epigenotype-phenotype correlations showed significance for only anterior ear lobe creases, visceromegaly and embryonal tumors. Additionally, one interesting patient had a mesenchymal tumor. Anticipating follow-up is clinically important in BWS.
['Bilgin|Burçak|B|', 'Kabaçam|Serkan|S|', 'Taşkıran|Ekim|E|', 'Şimşek-Kiper|Pelin Özlem|PÖ|', 'Alanay|Yasemin|Y|', 'Boduroğlu|Koray|K|', 'Utine|Gülen Eda|GE|']
D001506:Beckwith-Wiedemann Syndrome D002648:Child D002675:Child, Preschool D050761:Cyclin-Dependent Kinase Inhibitor p57 D019175:DNA Methylation D005260:Female D018392:Genomic Imprinting D005838:Genotype D006801:Humans D007223:Infant D008297:Male D060885:Multiplex Polymerase Chain Reaction D009154:Mutation D010641:Phenotype D017422:Sequence Analysis, DNA
epigenotype and phenotype correlation Beckwith-Wiedemann syndrome (BWS) Wilms tumor imprinting uniparental disomy