What is it about?

It is well known that Lis1 (PAFAH1B1), Crk and 14-3-3epsilon (YWHAE) in chromosome 17p13.3 are responsible for neuronal migration defects involved in Miller-Dieker syndrome (MDS) and 17p13.3 duplication syndrome. Between PAFAH1B1 and YWHAE, there are additional 23 genes that are often deleted or duplicated in MDS and duplication syndrome. However, the functions of these genes in developing cortex and neuronal migration have not been analyzed in detail. We summarized the potential functions of some of the 23 genes in neuronal migration.

Featured Image

Why is it important?

We recently found novel functions in developing cortex in Serpinf1, coding for PEDF, which is localized on 17p13.3. We summarized our findings of PEDF and other genes potentially responsible for neuronal migration defects seen in MDS.


There is no doubt that Lis1 is essential for neuronal migration and the major causative gene for MDS. However, there are 26 genes in the MDS critical regions, and the functions in neuronal migration and cortical development of most of the genes have not been analyzed. To fully understand MDS and 17p13.3 microduplication syndrome, we need to pay attention to 23 genes in addition to PAFAH1B1, CRK and YWHAE.

Kazuhito Toyooka
Drexel University

Read the Original

This page is a summary of: Responsible Genes for Neuronal Migration in the Chromosome 17p13.3: Beyond Pafah1b1(Lis1), Crk and Ywhae(14-3-3ε), Brain Sciences, December 2021, MDPI AG,
DOI: 10.3390/brainsci12010056.
You can read the full text:




The following have contributed to this page