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
Artigo
em Inglês
| 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.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Anormalidades Dentárias
/
Anormalidades Múltiplas
/
Anormalidades do Olho
/
Códon sem Sentido
/
Cardiopatias Congênitas
Tipo de estudo:
Estudo diagnóstico
Limite:
Adulto
/
Feminino
/
Humanos
/
Recém-Nascido
Idioma:
Inglês
Revista:
Braz. j. med. biol. res
Assunto da revista:
Biologia
/
Medicina
Ano de publicação:
2012
Tipo de documento:
Artigo
País de afiliação:
Croácia
Instituição/País de afiliação:
University Hospital Split/HR
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