Genetics and phenotypic heterogeneity of Galloway-Mowat syndrome.

ABSTRACT: Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive genetic disorder that is underrecognized. The phenotype is heterogeneous, but it is now widely accepted that early-onset nephrotic syndrome (SRNS) and microcephaly with brain malformation are characteristic features of Galloway-Mowat syndrome. Although the five subunits that encode the KEOPS complex, OSGEP/TP53RK/TPRKB/LAGE3/GON7, are known to cause Galloway-Mowat syndrome, the mutation of the WDR73, WDR4, NUP107, NUP133, and PRDM15 genes can lead to Galloway-Mowat syndrome, which makes the diagnosis more challenging. This review outlines current knowledge regarding Galloway-Mowat syndrome from another perspective. Starting from the history of Galloway-Mowat syndrome and reviewing the clinical details of patients with and withou

SUBMITTER: Huang L 

PROVIDER: S-EPMC12177991 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature