Naslov
Oculo-facio-cardio-dental syndrome in three succeeding generations : genotypic data and phenotypic features

Autori
Lozić, Bernarda ; Ljubković, Jelena ; Gabrić Pandurić, Dragana ; Saltvig, I. ; Kutsche, K. ; Krželj, Vjekoslav ; Zemunik, Tatijana

Izvornik
Brazilian Journal of Medical and Biological Research (0100-879X) 45 (2012), 12; 1315-1319

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
OFCD syndrome; BCOR gene; Talon cusp; Intrafamilial phenotypic variability

Sažetak
Oculo-facio-cardio-dental (OFCD) syndrome is a rare X-linked disorder mainly manifesting in females. Patients show ocular, facial, cardiac, and dental abnormalities. OFCD syndrome is caused by heterozygous mutations in the BCOR gene, located in Xp11.4, encoding the BCL6 co-repressor. We report a Croatian family with four female members (grandmother, mother and monozygotic female twins) diagnosed with OFCD syndrome who carry the novel BCOR mutation c.4438C>T (p.R1480*). They present high intrafamilial phenotypic variability with special regard to cardiac defect and cataract that showed more severe disease expression in successive generations. Clinical and radiographic examination of the mother of the twins revealed a talon cusp involving the permanent maxillary right central incisor. This is the first known report of a talon cusp in OFCD syndrome with a novel mutation in the BCOR gene.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti, Dentalna medicina

POVEZANOST RADA