![]() Oculofaciocardiodental syndrome (OFCD, Mendelian Inheritance in Man (MIM) #300166), an X-linked dominant disorder, is characterized by ocular, facial, cardiac and dental abnormalities associated with male lethality. Considering the presence of bilateral 2nd–3rd toe syndactyly and septal heart defects, which is unique to OFCD, the mutation in BCOR is likely to be the major determinant for the phenotypes in this family. The duplication at Xp22.2–22.13 involved the NHS gene causative for Nance–Horan syndrome, which is an X-linked disorder showing similar clinical features with OFCD in affected males, and in carrier females with milder presentation. The BCOR mutation may lead to a premature stop codon (p.N297IfsX80). Through the mutation screening and copy number analysis using genomic microarray, we identified a novel heterozygous mutation, c.888delG, in the BCOR gene and two interstitial microduplications at Xp22.2–22.13 and Xp21.3 in all the three affected females. ![]() Here, we report on a Korean family with common features of OFCD including bilateral 2nd–3rd toe syndactyly and septal heart defects in three affected females (mother and two daughters). Mutations in BCOR (encoding BCL-6-interacting corepressor) cause OFCD. Oculofaciocardiodental syndrome (OFCD) is an X-linked dominant disorder associated with male lethality, presenting with congenital cataract, dysmorphic face, dental abnormalities and septal heart defects.
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |