Thus far, only two mutations in the gene ZRSR2have been reported in males with OFD type 21. These mutations were detected by reading the coding sequence of all known genes (‘exome sequencing’). These mutations are presumed to alter, but not fully disrupt, the function of the protein that is encoded by this ZRSR2gene. Genetic alterations that are fully disrupting the ZRSR2gene, are probably not compatible with life in males.
The gene ZRSR2is an important factor in splicing. Splicing is a process in gene expression where non-coding segments (introns) are removed from a newly made RNA strand. After removal of the introns, the remaining coding segments (exons) are joined together to form a mature messenger RNA (mRNA) that can be used to build proteins. These proteins are the building blocks of our body. The above-mentioned mutations in ZRSR2impede normal splicing. As a consequence, some proteins are formed differently, causing congenital anomalies.
ZRSR2