References
Galloway WH, Mowat AP (1968) Congenital microcephaly with hiatus hernia and nephrotic syndrome in two sibs. J Med Genet 5:319–321
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
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
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
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
Ekstrand JJ, Friedman AL, Stafstrom CE (2012) Galloway-Mowat syndrome: neurologic features in two sibling pairs. Pediatr Neurol 47:129–132
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
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
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
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
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
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Conflict of interest
The authors declare that they have no conflict of interest.
Additional information
Publisher’s note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
The questions referred to in this article can be found at https://doi.org/10.1007/s00467-019-04260-4.
Rights and permissions
About this article
Cite this article
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
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00467-019-04261-3