Galloway WH, Mowat AP (1968) Congenital microcephaly with hiatus hernia and nephrotic syndrome in two Sibs. J Med Genet 5(4):319–321

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cohen AH, Turner MC (1994) Kidney in Galloway-Mowat syndrome: clinical spectrum with description of pathology. Kidney Int 45(5):1407–1415

Article  CAS  PubMed  Google Scholar 

Ekstrand JJ, Friedman AL, Stafstrom CE (2012) Galloway-Mowat syndrome: neurologic features in two sibling pairs. Pediatr Neurol 47(2):129–132

Article  PubMed  Google Scholar 

Al-Rakan MA, Abothnain MD, Alrifai MT, Alfadhel M (2018) Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings. BMC Ophthalmol 18(1):147

Article  PubMed  PubMed Central  Google Scholar 

Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W et al (2017) Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nat Genet 49(10):1529–1538

Article  CAS  PubMed  PubMed Central  Google Scholar 

Mann N, Mzoughi S, Schneider R, Kühl SJ, Schanze D, Klämbt V et al (2021) Mutations in PRDM15 are a novel cause of Galloway-Mowat syndrome. J Am Soc Nephrol 32(3):580–596

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rosti RO, Dikoglu E, Zaki MS, Abdel-Salam G, Makhseed N, Sese JC et al (2016) Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene. Am J Med Genet A 170A(4):992–998

Article  PubMed  PubMed Central  Google Scholar 

Kose M, Isik E, Aykut A, Durmaz A, Kose E, Ersoy M et al (2021) The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum. J Pediatr Endocrinol Metab 34(4):417–430

Article  CAS  PubMed  Google Scholar 

Hiraide T, Hayashi T, Ito Y, Urushibata R, Uchida H, Kitagata R et al (2024) Case report: novel compound heterozygous TPRKB variants cause Galloway-Mowat syndrome. Front Pediatr 12:1360867

Article  PubMed  PubMed Central  Google Scholar 

Kaur N, Arora K, Radhakrishnan P, Narayanan DL, Shukla A (2024) Intragenic homozygous duplication in HEPACAM is associated with megalencephalic leukoencephalopathy with subcortical cysts type 2A. Neurogenetics

Quinodoz M, Peter VG, Bedoni N, Royer Bertrand B, Cisarova K, Salmaninejad A et al (2021) AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data. Nat Commun 12(1):518

Article  CAS  PubMed  PubMed Central  Google Scholar 

Quinlan AR, Hall IM (2010) BEDTools: a flexible suite of utilities for comparing genomic features. Bioinformatics 26(6):841–842

Article  CAS  PubMed  PubMed Central  Google Scholar 

Pettersen EF, Goddard TD, Huang CC, Couch GS, Greenblatt DM, Meng EC et al (2004) UCSF Chimera—A visualization system for exploratory research and analysis. J Comput Chem 25(13):1605–1612

Article  CAS  PubMed  Google Scholar 

Colin E, Huynh Cong E, Mollet G, Guichet A, Gribouval O, Arrondel C et al (2014) Loss-of-Function mutations in WDR73 are responsible for microcephaly and Steroid-Resistant nephrotic syndrome: Galloway-Mowat syndrome. Am J Hum Genet 95(6):637–648

Article  CAS  PubMed  PubMed Central  Google Scholar 

Braun DA, Shril S, Sinha A, Schneider R, Tan W, Ashraf S et al (2018) Mutations in WDR4 as a new cause of Galloway–Mowat syndrome. Am J Med Genet Pt A 176(11):2460–2465

Article  CAS  Google Scholar 

Fujita A, Tsukaguchi H, Koshimizu E, Nakazato H, Itoh K, Kuraoka S et al (2018) Homozygous splicing mutation in NUP13 3 causes Galloway–Mowat syndrome. Ann Neurol 84(6):814–828

Article  CAS  PubMed  Google Scholar 

Arrondel C, Missoury S, Snoek R, Patat J, Menara G, Collinet B et al (2019) Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome. Nat Commun 10(1):3967

Article  PubMed  PubMed Central  Google Scholar 

Pezzella M, Yeghiazaryan NS, Veggiotti P, Bettinelli A, Giudizioso G, Zara F et al (2010) Galloway–Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature. Seizure 19(2):132–135

Article  PubMed  Google Scholar 

Jinks RN, Puffenberger EG, Baple E, Harding B, Crino P, Fogo AB et al (2015) Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. Brain 138(Pt 8):2173–2190

Article  PubMed  PubMed Central  Google Scholar 

Vodopiutz J, Seidl R, Prayer D, Khan MI, Mayr JA, Streubel B et al (2015) WDR73 mutations cause infantile neurodegeneration and variable glomerular kidney disease. Hum Mutat 36(11):1021–1028

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chen J, Ye GB, Huang JR, Peng M, Gu WY, Xiong P et al (2023) Novel TP53RK variants cause varied clinical features of Galloway–Mowat syndrome without nephrotic syndrome in three unrelated Chinese patients. Front Mol Neurosci 16:1116949

Article  CAS  PubMed  PubMed Central  Google Scholar 

Teng H, Liang C, Liang D, Li Z, Wu L (2021) Novel variants in OSGEP leading to Galloway-Mowat syndrome by altering its subcellular localization. Clin Chim Acta 523:297–303

Article  CAS  PubMed  Google Scholar 

Shaheen R, Abdel-Salam GMH, Guy MP, Alomar R, Abdel-Hamid MS, Afifi HH et al (2015) Mutation in WDR4 impairs tRNA m7G46 methylation and causes a distinct form of microcephalic primordial dwarfism. Genome Biol 16(1):210

Article  PubMed  PubMed Central  Google Scholar 

Wan LCK, Maisonneuve P, Szilard RK, Lambert JP, Ng TF, Manczyk N et al (2017) Proteomic analysis of the human KEOPS complex identifies C14ORF142 as a core subunit homologous to yeast Gon7. Nucleic Acids Res 45(2):805–817

Article  CAS  PubMed  Google Scholar 

Li J, Ma X, Banerjee S, Chen H, Ma W, Bode AM et al (2021) Crystal structure of the human PRPK-TPRKB complex. Commun Biol 4(1):167

Article  CAS  PubMed  PubMed Central  Google Scholar 

Srinivasan M, Mehta P, Yu Y, Prugar E, Koonin EV, Karzai AW et al (2011) The highly conserved KEOPS/EKC complex is essential for a universal tRNA modification, t6A. EMBO J 30(5):873–881

Article  CAS  PubMed  Google Scholar 

Wan LCK, Mao DYL, Neculai D, Strecker J, Chiovitti D, Kurinov I et al (2013) Reconstitution and characterization of eukaryotic N6-threonylcarbamoylation of tRNA using a minimal enzyme system. Nucleic Acids Res 41(12):6332–6346

Article  CAS  PubMed  PubMed Central  Google Scholar 

Pollo-Oliveira L, Klassen R, Davis N, Ciftci A, Bacusmo J, Martinelli M et al (2020) Loss of Elongator- and KEOPS-Dependent tRNA modifications leads to severe growth phenotypes and protein aggregation in yeast. Biomolecules 10(2):322

Article  CAS  PubMed  PubMed Central  Google Scholar 

Costessi A, Mahrour N, Sharma V, Stunnenberg R, Stoel MA, Tijchon E et al (2012) The human EKC/KEOPS complex is recruited to Cullin2 ubiquitin ligases by the human tumour antigen PRAME. PLoS ONE 7(8):e42822

Article  CAS  PubMed  PubMed Central  Google Scholar 

Downey M, Houlsworth R, Maringele L, Rollie A, Brehme M, Galicia S et al (2006) A Genome-Wide screen identifies the evolutionarily conserved KEOPS complex as a telomere regulator. Cell 124(6):1155–1168

Article  CAS