Oculo-facio-cardio-dental syndrome in three succeeding generations: genotypic data and phenotypic features.
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Oculo-facio-cardio-dental syndrome in three succeeding generations: genotypic data and phenotypic features. / Lozić, B; Ljubković, J; Pandurić, D Gabrić; Saltvig, I; Kutsche, Kerstin; Krželj, V; Zemunik, T.
In: BRAZ J MED BIOL RES, Vol. 45, No. 12, 12, 01.12.2012, p. 1315-1319.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Oculo-facio-cardio-dental syndrome in three succeeding generations: genotypic data and phenotypic features.
AU - Lozić, B
AU - Ljubković, J
AU - Pandurić, D Gabrić
AU - Saltvig, I
AU - Kutsche, Kerstin
AU - Krželj, V
AU - Zemunik, T
PY - 2012/12/1
Y1 - 2012/12/1
N2 - 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.
AB - 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.
U2 - 10.1590/s0100-879x2012007500150
DO - 10.1590/s0100-879x2012007500150
M3 - SCORING: Journal article
C2 - 22983184
VL - 45
SP - 1315
EP - 1319
JO - BRAZ J MED BIOL RES
JF - BRAZ J MED BIOL RES
SN - 0100-879X
IS - 12
M1 - 12
ER -
