Epigenotype and phenotype correlations in patients with Beckwith-Wiedemann syndrome

Özet

Beckwith-Wiedemann Syndrome (BWS) is one of the most common overgrowthsyndromes. Cancer predisposition is an important feature of this clinicallyheterogeneous syndrome. Patients may have fetal and early childhoodovergrowth, hemihyperplasia, macroglossia, facial dysmorphic features,abdominal wall defects, visceromegaly, and anomalies of the heart and thekidneys. Various previous investigations showed that heterogeneous molecularetiology may contribute to clinical variability and that epigenotype-phenotypecorrelations exist in BWS. This study was performed to detect the molecularetiology in 28 patients with BWS, to search for epigenotype-phenotypecorrelations and to provide appropriate individualized multidisciplinaryapproach. Four different molecular etiology groups were determined based ontesting for copy number analysis and methylation status at 11p15. Sequencingfor CDKN1C mutations were also performed. Groups were compared for variousclinical findings. Differences between groups were not statistically significantowing to the small number of patients in individual groups. Statisticalstudies for epigenotype-phenotype correlations showed significance for onlyanterior ear lobe creases, visceromegaly and embryonal tumors. Additionally,one interesting patient had a mesenchymal tumor. Anticipating follow-up isclinically important in BWS.