Partial KCNQ1OT1 hypomethylation: A disguised familial Beckwith–Wiedemann syndrome as a sporadic adrenocortical tumor

Publication date: 1 March 2015 Source:Applied & Translational Genomics, Volume 4 Author(s): Dorra H'mida Ben-Brahim , Sabeur Hammami , Marwa Haddaji Mastouri , Saoussen Trabelsi , Maroua Chourabi , Sihem Sassi , Soumaya Mougou , Moez Gribaa , Abdelfattah Zakhama , Mohamed Neji Guédiche , Ali Saad Beckwith–Wiedemann syndrome has a wide spectrum of complications such as embryonal tumors, namely adrenocortical tumor. Tumor predisposition is one of the most challenging manifestations of this syndrome. A 45-day old female with a family history of adrenocortical tumor presented with adrenocortical tumor. The case raised suspicion of a hereditary Beckwith–Wiedemann syndrome, therefore molecular analysis was undertaken. The results revealed partial KCNQ1OT1 hypomethylation in the infant's blood DNA which was associated with a complete loss of methylation in the infant's adrenocortical tumor tissue. It is unique for familial Beckwith–Wiedemann syndrome caused by KCNQ1OT1 partial hypomethylation to manifest solely through adrenocortical tumor. Incomplete penetrance and specific tissue mosaicism could provide explanations to this novel hereditary Beckwith–Wiedemann syndrome presentation.

Source: Applied and Translational Genomics - December 15, 2014 Category: Genetics & Stem Cells Source Type: research