1 One form of Stickler syndrome is due to mutation in the COL2A1 gene on chromosome 12 in region 12q13.11-q13.2. It is termed Stickler syndrome, type I and symbolized STL1.  A second form of Stickler syndrome is caused by mutation in the COL11A1 gene on chromosome 1 in region 1p21.
Recent technical advances in this field will give rise to conceptual advances and there is every reason to believe that a new field of cancer genetics is emerging, named here Oncogenetics: a branch of genetics describing the cause of effects of genes causing neoplasia.
A change in the DNA sequence of the proto-oncogene gives rise to an oncogene, which produces a different protein and interferes with normal cell regulation. There are trillions of living cells in the body that grow, divide, and die in an orderly fashion. This process is tightly regulated by the genes within a cellâs nucleus. These genes code for proteins that help regulate cell growth. These important genes are called proto-oncogenes. A change in the DNA sequence of the proto-oncogene gives rise to an oncogene, which produces a different protein and interferes with normal cell regulation. Proto-oncogenes have many functions in a cell but they often code for proteins that stimulate cell division, prevent cell differentiation or regulate programmed cell death (apoptosis). These are all essential processes required for normal growth, development and the maintenance of healthy organs and tissues.