A new study has shown that when a gene is mutated and its copy number is altered, the risk of that gene contributing to the development of cancer increases. Although it was already known that both variations together promoted cancer, it had not been described how the link between the two leads to the progression of tumors and what implications it had on the genetics of cancer.
A spontaneous homozygous deletion affecting the copy number of the cadherin 23 (Cdh23) gene in a line of laboratory mice gave rise to a new murine model with hereditary hearing loss and vestibular alterations.
Australian geneticists have developed a new tool, the Single Nucleotide Association Test for CNVs, with which to analyze copy number variations and their associations in genetic neurodevelopmental disorders.
