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An unusual case of nephrotic syndrome in a microcephalic infant: Answers

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References

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

    Article  CAS  Google Scholar 

  2. Jinks R, Puffenberger E (2015) Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. Brain 138:2173–2190. https://doi.org/10.1093/brain/awv153

    Article  PubMed  PubMed Central  Google Scholar 

  3. Ben-Omran T, Fahiminiya S, Sorfazlian N, Almuriekhi M, Nawaz Z, Nadaf J, Khadija KA, Zaineddin S, Kamel H, Majewski J, Tropepe V (2015) Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome. J Med Genet 52:381–390. https://doi.org/10.1136/jmedgenet-2014-102707

    Article  CAS  PubMed  Google Scholar 

  4. Rosti RO, Dikoglu E, Zaki MS, Abdel-Salam G, Makhseed N, Sese JC, Musaev D, Rosti B, Harbert MJ, Jones MC, Vaux KK, Gleeson JG (2016) Extending the mutation spectrum for Galloway–Mowat syndrome to include homozygous missense mutations in the WDR73 gene. Am J Med Genet 170A:992–998. https://doi.org/10.1002/ajmg.a.37533

    Article  CAS  PubMed  Google Scholar 

  5. Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch’ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F (2017) Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nat Genet 49:1529–1538. https://doi.org/10.1038/ng.3933

    Article  CAS  PubMed  PubMed Central  Google Scholar 

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

    Article  Google Scholar 

  7. Retterer K, Juusola J, Cho MT, Vitazka P, Millan F, Gibellini F, Vertino-Bell A, Smaoui N, Neidich J, Monaghan KG, McKnight D, Bai R, Suchy S, Friedman B, Tahiliani J, Pineda-Alvarez D, Richard G, Brandt T, Haverfield E, Chung WK, Bale S (2016) Clinical application of whole-exome sequencing across clinical indications. Genet Med 18:696–704. https://doi.org/10.1038/gim.2015.148

    Article  CAS  PubMed  Google Scholar 

  8. Preston R, Stuart HM, Lennon R (2019) Genetic testing in steroid-resistant nephrotic syndrome: why, who, when, and how? Pediatr Nephrol 34:195–210. https://doi.org/10.1007/s00467-017-3838-6

    Article  PubMed  Google Scholar 

  9. Gbadegesin RA, Winn MP, Smoyer WE (2012) Genetic testing in nephrotic syndrome – challenges and opportunities. Nat Rev Nephrol 9:179–184. https://doi.org/10.1038/nrneph.2012.286

    Article  CAS  Google Scholar 

  10. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number:301006: 11/17/2017: World Wide Web URL: https://omim.org/. Accessed 16 Mar 2019

  11. Shiihara T, Kato M, Kimura T, Matsunaga A, Joh K, Hayasaka K (2003) Microcephaly, cerebellar atrophy, and focal segmental glomerulosclerosis in two brothers: a possible mild form of Galloway-Mowat syndrome. J Child Neurol 18:147–149. https://doi.org/10.1177/08830738030180021801

    Article  PubMed  Google Scholar 

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Correspondence to Laurie Demmer.

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The questions referred to in this article can be found at https://doi.org/10.1007/s00467-019-04260-4.

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Baker, E., Weaver, D., Massengill, S. et al. An unusual case of nephrotic syndrome in a microcephalic infant: Answers. Pediatr Nephrol 34, 2327–2329 (2019). https://doi.org/10.1007/s00467-019-04261-3

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  • DOI: https://doi.org/10.1007/s00467-019-04261-3

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