Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome

Conclusion Recently, NUP107 was suggested as a candidate in a family with nephrotic syndrome and developmental delay. Other NUP107-reported cases had isolated renal phenotypes. With the addition of these individuals, we implicate an allele-specific critical role for NUP107 in the regulation of brain growth and a GAMOS-like presentation.

http://jmg.bmj.com/cgi/content/short/54/6/399?rss=1

Source: Journal of Medical Genetics - May 26, 2017 Category: Genetics & Stem Cells Authors: Rosti, R. O., Sotak, B. N., Bielas, S. L., Bhat, G., Silhavy, J. L., Aslanger, A. D., Altunoglu, U., Bilge, I., Tasdemir, M., Yzaguirrem, A. D., Musaev, D., Infante, S., Thuong, W., Marin-Valencia, I., Nelson, S. F., Kayserili, H., Gleeson, J. G. Tags: Short Report Source Type: research