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

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

Zurück zum Zitat 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 CrossRefPubMedPubMedCentral 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 CrossRefPubMedPubMedCentral

Zurück zum Zitat 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 CrossRefPubMed 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 CrossRefPubMed

Zurück zum Zitat 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 CrossRefPubMed 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 CrossRefPubMed

Zurück zum Zitat 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 CrossRefPubMedPubMedCentral 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 CrossRefPubMedPubMedCentral

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

Zurück zum Zitat 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 CrossRefPubMed 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 CrossRefPubMed

Zurück zum Zitat 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 CrossRefPubMed 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 CrossRefPubMed

Zurück zum Zitat 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 CrossRef 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 CrossRef

Zurück zum Zitat 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 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

Zurück zum Zitat 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 CrossRefPubMed 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/​0883073803018002​1801 CrossRefPubMed