Consulta: creatorFacets:"Ljubković,J."
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Data/hora: 13/06/2024 13:58:01

Oculo-facio-cardio-dental syndrome in three succeeding generations: genotypic data and phenotypic features
Provedor de dados: 56
Autores: Lozić,B.; Ljubković,J.; Pandurić,D. Gabrić; Saltvig,I.; Kutsche,K.; Krželj,V.; Zemunik,T.
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&gt;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...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: OFCD syndrome; BCOR gene; Talon cusp; Intrafamilial phenotypic variability.
Ano: 2012
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2012001200030