A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS

作者：Kondo Yukiko; Saitsu Hirotomo; Miyamoto Toshinobu; Nishiyama Kiyomi; Tsurusaki Yoshinori; Doi Hiroshi; Miyake Noriko; Ryoo Na Kyung; Kim Jeong Hun; Yu Young Suk; Matsumoto Naomichi^*

来源：Journal of Human Genetics, 2012, 57(3): 197-201.

DOI：10.1038/jhg.2012.4

• BCOR
• congenital cataract
• frameshift mutation
• genomic rearrangement
• Nance-Horan syndrome
• NHS
• oculofaciocardiodental syndrome

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. Mutations in BCOR (encoding BCL-6-interacting corepressor) cause OFCD. 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). 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. The BCOR mutation may lead to a premature stop codon (p.N297IfsX80). 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. 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. Journal of Human Genetics (2012) 57, 197-201; doi:10.1038/jhg.2012.4; published online 2 February 2012

• 出版日期2012-3