ArticleBMC nephrology2023
Diagnosis delay a family of Galloway-Mowat Syndrome caused by a classical splicing mutation of Lage3.
Article in BMC nephrology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 8 citations in OpenAlex.
- Consanguinity-linked genetic variants in Algerian patients with steroid-resistant nephrotic syndrome: a familial study.Pediatric nephrology (Berlin, Germany) · 2026Article
- Refining the Phenotypic and Genotypic Spectrum ofNeurology. Genetics · 2025Article
- Two brothers presented with rare clinical characteristics with a novel LAGE3 variant: a case report and literature review.BMC pediatrics · 2025Review
- [Research progress on monogenic inherited glomerular diseases with central nervous system symptoms].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2024Review
- Case Report: Novel compound heterozygousFrontiers in pediatrics · 2024Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
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Abstract
backgroundGalloway-Mowat syndrome (GAMOS) is a group of rare hereditary diseases by the combination of early onset steroid-resistant nephrotic syndrome (SRNS) and microcephaly with brain anomalies caused by WDR73, LAGE3, OSGEP, TP53RK, TPRKB, GON7, WDR4 or NUP133 mutations. CASE PRESENTATION: We present the clinical and genetic features of a two-year-old boy with early nephrotic syndrome, microcephaly, growth retardation hypotonia and hypothyroidism. Genetic testing showed the presence of a canonical-splice mutation in the LAGE3 gene (NM_006014: c.188 + 1C > T). A total of nine female members of the family carried the variant. Seven male members died prematurely, and three of them suffered from nephrotic syndrome, which is consistent with the x-linked gene map of the disease. The overall symptoms of the disease due to the LAGE3 mutation were mild compared to other pathogenic genes.
conclusionAs far as we know, this is the largest family case of GAMOS2 caused by LAGE3 mutation found so far. We also compared other subtypes of GAMOS. Due to the heterogeneity of the renal phenotype, regular proteinuria screening is recommended for all patients diagnosed with GAMOS.
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