Oculo-facio-cardio-dental syndrome in three succeeding generations: genotypic data and phenotypic features
Braz. j. med. biol. res
;
45(12): 1315-1319, Dec. 2012. ilus, tab
Artículo
en Inglés
| LILACS
| ID: lil-659655
ABSTRACT
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.
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LILACS (Américas)
Asunto principal:
Anomalías Dentarias
/
Anomalías Múltiples
/
Anomalías del Ojo
/
Codón sin Sentido
/
Cardiopatías Congénitas
Tipo de estudio:
Estudio diagnóstico
Límite:
Adulto
/
Femenino
/
Humanos
/
Recién Nacido
Idioma:
Inglés
Revista:
Braz. j. med. biol. res
Asunto de la revista:
Biologia
/
Medicina
Año:
2012
Tipo del documento:
Artículo
País de afiliación:
Croacia
Institución/País de afiliación:
University Hospital Split/HR
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