| Autor: |
H'mida Ben-Brahim, Dorra, Hammami, Sabeur, Haddaji Mastouri, Marwa, Trabelsi, Saoussen, Chourabi, Maroua, Sassi, Sihem, Mougou, Soumaya, Gribaa, Moez, Zakhama, Abdelfattah, Guédiche, Mohamed Neji, Saad, Ali |
| Zdroj: |
Applied & Translational Genomics; Mar2015, Vol. 4, p1-3, 3p |
| Abstrakt: |
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. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Supplemental Index |
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