Family With Sequence Similarity 27 Like Protein (FAM27L)

Based on the analysis of the distribution of chromosomal breakpoints defined by the SNP-arrays, four recurrent chromosomal breakpoints were identified at chromosomes 1p12, 8p12, 17p11.2 and 20p12.1. Chromosomes 1, 8 and 20 showed a high number of different breakpoint regions with a variable and heterogeneous distribution; in contrast, a highly prevalent breakpoint region was identified in the centromeric portion of chromosome 17p, between the genome coordinates 20,156,497 bp and 22,975,771 bp, and a minimum size of 28.2 Mb for the recurrent breakpoint. In these 15 cases, the first gene affected on the retained telomeric side of the breakpoint region was the CYTSB gene and the first constantly deleted gene on the centromeric side was the FAM27L gene. Interestingly, in 13 of these 15 patients a preferential breakpoint occurred at the 21,769,828–22,975,771 genome coordinate where the FAM27L gene is coded.