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

Abstract

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