Galloway-Mowat Syndrome Type 3 Caused by OSGEP Gene Variants: A Case Report and Literature Review.

ABSTRACT:

Background

Galloway-Mowat syndrome type 3 (GAMOS3) is an extremely rare and severe autosomal-recessive disease characterized by early-onset nephrotic syndrome (NS), microcephaly and neurological impairment. Reported GAMOS cases have gradually increased since pathogenic OSGEP variants were identified as the aetiology in 2017.

Methods

Using whole-exome sequencing and a data analysis process established by Children's Hospital of Fudan University, the clinical and molecular features of 3 infants with OSGEP mutations were summarized. Literature regarding the clinical features of GAMOS3 caused by OSGEP variants was reviewed.

Results

Thirty-seven individuals (3 from this study) from 34 families were included. Twenty-two different OSGEP variants we

SUBMITTER: Xu S 

PROVIDER: S-EPMC9249162 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature