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April 2, 2024Frontiers in PediatricsOpen Access

Case Report: Novel compound heterozygous TPRKB variants cause Galloway-Mowat syndrome

Takuya Hiraide Taiju Hayashi Yusuke Ito Rei Urushibata Hiroshi Uchida Ryoichi Kitagata Hidetoshi Ishigaki Tsutomu Ogata Hirotomo Saitsu Tokiko Fukuda

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Abstract

Galloway-Mowat syndrome (GAMOS) is a rare genetic disease characterized by early-onset nephrotic syndrome and microcephaly with central nervous system abnormalities. Pathogenic variants in genes encoding kinase, endopeptidase, and other proteins of small size (KEOPS) complex subunits cause GAMOS. The subunit

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Hiraide et al. (2024) studied this question.

synapsesocial.com/papers/68e70b41b6db643587684f3c https://doi.org/10.3389/fped.2024.1360867

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Genotypic and phenotypic spectrum of Galloway-Mowat syndrome in KuwaitOriginal Research · 2026
2Congenital nephrotic syndrome with fulminant clinical course: A lesson for primary care physicianOriginal Research · 2026
3<i>OSGEP</i> -Associated Galloway-Mowat Syndrome: A Longitudinal Genotype-Phenotype Correlation from Prenatal Imaging Markers to Lifespan Neurologic-Renal TrajectoriesSystematic Review · 2026
4Early onset LGMDR19 with unusual features related to GMPPB gene in South Indian siblings with variable phenotype2024
5A novel homozygous frameshift mutation in the <i>WDR73</i> gene causes Galloway-Mowat syndrome in a Chinese consanguineous family.Original Research · 2026

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