Novel LAGE3 Pathogenic Variants Combined with TRPC6 and NUP160 Variants in Galloway-Mowat Syndrome: A Case Report.

Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disorder characterized by early-onset nephrotic syndrome and microcephaly with brain anomalies in children. Researchers studying GAMOS reported the first pathogenic variant identified was the gene, and more recently, four new pathogenic genes, and , have been identified. In the present study, we report a new mutation of c.290T>G (p.L97R) in a 4-year-old boy with specific urological and nephrological complications. The patient presented with early-onset proteinuria, brain atrophy, delayed language and motor development, and axial hypotonia. This patient also had mutations in two other genes: and , make the clinical presentation of this patient more diverse. Our novel findings add to the spectrum of pathogenic variants in the gene. In addition, early genetic diagnosis of GAMOS is essential for genetic counseling and prenatal care.