Publication
Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3
Review article about the chromosome 17p13.3 microdeletion and microduplication syndromes
What is it about?
The aim of this project is to clarify the etiology of the 17p13.3 microdeletion (Miller-Dieker syndrome, MDS) and microduplication syndrome. We are interested in clarifying the functions of 26 genes involved in the 17p13.3 microdeletion (Miller-Dieker syndrome) and microduplication syndrome.
Why is it important?
In the chromosome 17p13.3 , there is a hotspot, called MDS critical region, which is often deleted or duplicated in MDS and the 17p13.3 duplication syndrome. there are 26 genes in MDS critical region, but the functions of many of those 26 genes in cortical development have not been clarified. Therefore, to understand the etiology of neurodevelopmental disorders, it is of importance to investigate the functions in neurodevelopment.
Perspectives
It is known that Lis1, Crk and 14-3-3epsilon in 17p13.3 are responsible genes for MDS. However, the MDS critical chromosome region contains 26 gens, including PEDF (Serpinf1). Thus, we know a bit about MDS etiology, but we still don't know many thins about MDS. Please don't say that we know already MDS etiology.
Kazuhito
Toyooka
Drexel University
