title: Partial KCNQ1OT1 hypomethylation: A disguised familial Beckwith-Wiedemann syndrome as a sporadic adrenocortical tumor.
abstract: 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.
authors.affiliation: Department of Cytogenetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia.
authors.forename: Dorra
authors.initials: D
authors.lastname: H'mida Ben-Brahim
authors.affiliation: Department of Pediatrics, Fattouma Bourguiba University Hospital, Monastir, Tunisia.
authors.forename: Sabeur
authors.initials: S
authors.lastname: Hammami
authors.affiliation: Department of Cytogenetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia.
authors.forename: Marwa
authors.initials: M
authors.lastname: Haddaji Mastouri
authors.affiliation: Department of Cytogenetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia.
authors.forename: Saoussen
authors.initials: S
authors.lastname: Trabelsi
authors.affiliation: Department of Cytogenetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia.
authors.forename: Maroua
authors.initials: M
authors.lastname: Chourabi
authors.affiliation: Department of Cytogenetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia.
authors.forename: Sihem
authors.initials: S
authors.lastname: Sassi
authors.affiliation: Department of Cytogenetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia.
authors.forename: Soumaya
authors.initials: S
authors.lastname: Mougou
authors.affiliation: Department of Cytogenetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia.
authors.forename: Moez
authors.initials: M
authors.lastname: Gribaa
authors.affiliation: Department of Pathology, Fattouma Bourguiba University Hospital, Monastir, Tunisia.
authors.forename: Abdelfattah
authors.initials: A
authors.lastname: Zakhama
authors.affiliation: Department of Pediatrics, Fattouma Bourguiba University Hospital, Monastir, Tunisia.
authors.forename: Mohamed Neji
authors.initials: MN
authors.lastname: Guédiche
authors.affiliation: Department of Cytogenetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia.
authors.forename: Ali
authors.initials: A
authors.lastname: Saad
keywords: Adrenocortical tumor; Beckwith–Wiedemann syndrome; Hereditary; KCNQ1OT1