{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["16"],"submitter":["Chen J"],"pubmed_abstract":["<h4>Objectives</h4>Galloway-Mowat syndrome-4 (GAMOS4) is a very rare renal-neurological disease caused by <i>TP53RK</i> gene mutations. GAMOS4 is characterized by early-onset nephrotic syndrome, microcephaly, and brain anomalies. To date, only nine GAMOS4 cases with detailed clinical data (caused by eight deleterious variants in <i>TP53RK</i>) have been reported. This study aimed to examine the clinical and genetic characteristics of three unrelated GAMOS4 patients with <i>TP53RK</i> gene compound heterozygous mutations.<h4>Methods</h4>Whole-exome sequencing (WES) was used to identify four novel <i>TP53RK</i> variants in three unrelated Chinese children. Clinical characteristics such as biochemical parameters and image findings of patients were also evaluated. Furthermore, four studies of "],"journal":["Frontiers in molecular neuroscience"],"pagination":["1116949"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9977797"],"repository":["biostudies-literature"],"pubmed_title":["Novel <i>TP53RK</i> variants cause varied clinical features of Galloway-Mowat syndrome without nephrotic syndrome in three unrelated Chinese patients."],"pmcid":["PMC9977797"],"pubmed_authors":["Chen J","Xiong P","Huang JR","Gu WY","Ye GB","Peng M","Zhu HM"],"additional_accession":[]},"is_claimable":false,"name":"Novel <i>TP53RK</i> variants cause varied clinical features of Galloway-Mowat syndrome without nephrotic syndrome in three unrelated Chinese patients.","description":"<h4>Objectives</h4>Galloway-Mowat syndrome-4 (GAMOS4) is a very rare renal-neurological disease caused by <i>TP53RK</i> gene mutations. GAMOS4 is characterized by early-onset nephrotic syndrome, microcephaly, and brain anomalies. To date, only nine GAMOS4 cases with detailed clinical data (caused by eight deleterious variants in <i>TP53RK</i>) have been reported. This study aimed to examine the clinical and genetic characteristics of three unrelated GAMOS4 patients with <i>TP53RK</i> gene compound heterozygous mutations.<h4>Methods</h4>Whole-exome sequencing (WES) was used to identify four novel <i>TP53RK</i> variants in three unrelated Chinese children. Clinical characteristics such as biochemical parameters and image findings of patients were also evaluated. Furthermore, four studies of ","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023","modification":"2025-04-21T23:46:09.436Z","creation":"2025-04-05T19:16:56.046Z"},"accession":"S-EPMC9977797","cross_references":{"pubmed":["36873107"],"doi":["10.3389/fnmol.2023.1116949"]}}