ArticleBMC medical genetics2018
A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report.
Article in BMC medical genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 24 citations in OpenAlex.
- Genetics and phenotypic heterogeneity of Galloway-Mowat syndrome.Cell communication and signaling : CCS · 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
- Whole-exome sequencing revealed a novel homozygous missense variant in OSGEP gene: a case report of Galloway-Mowat syndrome in Iran.CEN case reports · 2023Article
- Diagnosis delay a family of Galloway-Mowat Syndrome caused by a classical splicing mutation of Lage3.BMC nephrology · 2023Article
- NovelFrontiers in molecular neuroscience · 2023Article
- Conservation and Diversification of tRNA tInternational journal of molecular sciences · 2022Review
- An unusual kidney presentation of severe proteinuria in a 2-year-old girl: Answers.Pediatric nephrology (Berlin, Germany) · 2021Article
- The Intersection of the Genetic Architectures of Orofacial Clefts and Normal Facial Variation.Frontiers in genetics · 2021Article
- KEOPS complex promotes homologous recombination via DNA resection.Nucleic acids research · 2019Article
- Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature.BMC nephrology · 2019Review
- Matching tRNA modifications in humans to their known and predicted enzymes.Nucleic acids research · 2019Article
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Authors and funding
10 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGalloway-Mowat syndrome (GAMOS) is a rare hereditary renal-neurological disease characterized by early-onset steroid-resistant nephrotic syndrome in combination with microcephaly and brain anomalies. Recently, novel causative mutations for this disease have been identified in the genes encoding the four KEOPS subunits: OSGEP, TP53RK, TPRKB, and LAGE3. CASE PRESENTATION: We detected a novel homozygous TP53RK mutation (NM_033550, c.194A > T, p.Lys65Met) using whole exome sequencing in a familial case of GAMOS with three affected siblings. All three patients manifested similar phenotypes, including very early-onset nephrotic syndrome (8 days, 1 day, and 1 day after birth, respectively), microcephaly, dysmorphic faces, and early fatality (10 months, 21 days, and 25 days of age, respectively). One patient also showed hiatal hernia with gastric volvulus. Renal biopsy performed on one patient revealed focal segmental glomerulosclerosis with severe tubulo-interstitial changes.
conclusionWe report on a familial case of GAMOS with three affected siblings carrying a novel homozygous TP53RK mutation. To our knowledge, this is only the second report on GAMOS in association with a TP53RK mutation.
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