Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele

An omphalocele is a birth defect affecting about 1 in 5000 live births and characterized by the internal organs located outside the abdomen.  We conducted a genetic study using linkage analysis and microarray with quantitative microsphere hybridization techniques in a large family with multiple affected individuals and found a 710 kb duplication of chromosome band 1p31.3 involving seven genes (FOXD3, ALG6, ITGB3BP, KIAA1799, DLEU2L, PGM1 and ROR1).  This suggests that the omphalocele resulted from over expression of one or more of these genes.  Our observation is the first to elucidate the molecular cause of omphaloceles in the general population. (By Dr. Uppala Radhakrishna, http://jmg.bmj.com/content/49/4/270.abstract )