References
1 Arora V, Anand K, Chander Verma I. Genetic testing in pediatric kidney disease[J]. Indian J Pediatr, 2020, 87(9): 706-715. PMID: 32056192. DOI: 10.1007/s12098-020-03198-y.
2 匡新宇, 黄文彦. 儿童遗传性肾脏病的分类及诊治进展[J]. 诊断学理论与实践, 2021, 20(2): 117-124. DOI: 10.16150/j.1671-2870.2021.02.001.
3 Connaughton DM, Kennedy C, Shril S, et al. Monogenic causes of chronic kidney disease in adults[J]. Kidney Int, 2019, 95(4): 914-928. PMID: 30773290. PMCID: PMC6431580. DOI: 10.1016/j.kint.2018.10.031.
4 Sambharia M, Rastogi P, Thomas CP. Monogenic focal segmental glomerulosclerosis: a conceptual framework for identification and management of a heterogeneous disease[J]. Am J Med Genet C Semin Med Genet, 2022, 190(3): 377-398. PMID: 35894442. PMCID: PMC9796580. DOI: 10.1002/ajmg.c.31990.
5 Boyer O, Mollet G, Dorval G. Neurological disorders and hereditary podocytopathies: some fascinating pathophysiological overlaps[J]. Med Sci (Paris), 2023, 39(3): 246-252. PMID: 36943121. DOI: 10.1051/medsci/2023029.
6 Trautmann A, Lipska-Zi?tkiewicz BS, Schaefer F. Exploring the clinical and genetic spectrum of steroid resistant nephrotic syndrome: the PodoNet registry[J]. Front Pediatr, 2018, 6: 200. PMID: 30065916. PMCID: PMC6057105. DOI: 10.3389/fped.2018.00200.
7 Boyer O, Mollet G, Dorval G. Neurological involvement in monogenic podocytopathies[J]. Pediatr Nephrol, 2021, 36(11): 3571-3583. PMID: 33791874. DOI: 10.1007/s00467-020-04903-x.
8 Galloway WH, Mowat AP. Congenital microcephaly with hiatus hernia and nephrotic syndrome in two sibs[J]. J Med Genet, 1968, 5(4): 319-321. PMID: 5713646. PMCID: PMC1468664. DOI: 10.1136/jmg.5.4.319.
9 Al-Rakan MA, Abothnain MD, Alrifai MT, et al. Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings[J]. BMC Ophthalmol, 2018, 18(1): 147. PMID: 29929488. PMCID: PMC6013877. DOI: 10.1186/s12886-018-0820-4.
10 Jiang C, Gai N, Zou Y, et al. WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family[J]. Clin Chim Acta, 2017, 464: 24-29. PMID: 27983999. DOI: 10.1016/j.cca.2016.10.029.
11 El Younsi M, Kraoua L, Meddeb R, et al. WDR73-related Galloway Mowat syndrome with collapsing glomerulopathy[J]. Eur J Med Genet, 2019, 62(9): 103550. PMID: 30315938. DOI: 10.1016/j.ejmg.2018.10.002.
12 Racine J, Golden R. A patient diagnosed with Galloway-Mowat syndrome presenting with a rod-cone functional anomaly with electronegative dark-adapted ERGs[J]. Doc Ophthalmol, 2021, 143(1): 75-83. PMID: 33548032. DOI: 10.1007/s10633-021-09820-4.
13 Braun DA, Rao J, Mollet G, et al. Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly[J]. Nat Genet, 2017, 49(10): 1529-1538. PMID: 28805828. PMCID: PMC5819591. DOI: 10.1038/ng.3933.
14 Liu TL, Lin SP, Zenker M, et al. X-linked recessive Galloway-Mowat syndrome 2 caused by a specific LAGE3 variant[J]. Pediatr Neonatol, 2023, 64(2): 208-209. PMID: 36682911. DOI: 10.1016/j.pedneo.2022.09.005.
15 Chen Y, Yang Y, Yang Y, et al. Diagnosis delay a family of Galloway-Mowat Syndrome caused by a classical splicing mutation of Lage3[J]. BMC Nephrol, 2023, 24(1): 29. PMID: 36755238. PMCID: PMC9909869. DOI: 10.1186/s12882-022-03000-5.
16 Baker E, Weaver D, Massengill S, et al. An unusual case of nephrotic syndrome in a microcephalic infant: answers[J]. Pediatr Nephrol, 2019, 34(11): 2327-2329. PMID: 31069511. DOI: 10.1007/s00467-019-04261-3.
17 Huang L, Zhang X, Zhang Y, et al. Novel LAGE3 pathogenic variants combined with TRPC6 and NUP160 variants in Galloway-Mowat syndrome: a case report[J]. Case Rep Nephrol Dial, 2023, 13(1): 148-155. PMID: 37900929. PMCID: PMC10601869. DOI: 10.1159/000533580.
18 Wang PZT, Prasad C, Rodriguez Cuellar CI, et al. Nephrological and urological complications of homozygous c.974G>A (p.Arg325Gln) OSGEP mutations[J]. Pediatr Nephrol, 2018, 33(11): 2201-2204. PMID: 30141175. DOI: 10.1007/s00467-018-4060-x.
19 Domingo-Gallego A, Furlano M, Pybus M, et al. Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature[J]. BMC Nephrol, 2019, 20(1): 126. PMID: 30975089. PMCID: PMC6458604. DOI: 10.1186/s12882-019-1317-y.
20 Teng H, Liang C, Liang D, et al. Novel variants in OSGEP leading to Galloway-Mowat syndrome by altering its subcellular localization[J]. Clin Chim Acta, 2021, 523: 297-303. PMID: 34666032. DOI: 10.1016/j.cca.2021.10.012.
21 Joshi A, Sinha A, Sharma A, et al. Next-generation sequencing for congenital nephrotic syndrome: a multi-center cross-sectional study from India[J]. Indian Pediatr, 2021, 58(5): 445-451. PMID: 33980730.
22 Baker T, Caylor R, Wang J, et al. Neuropathologic findings in Galloway-Mowat syndrome 3 with a novel OSGEP variant[J]. J Neuropathol Exp Neurol, 2022, 81(11): 947-949. PMID: 36063408. DOI: 10.1093/jnen/nlac077.
23 Xu S, Hu L, Yang L, et al. Galloway-Mowat syndrome type 3 caused by OSGEP gene variants: a case report and literature review[J]. Front Pediatr, 2022, 10: 899991. PMID: 35783322. PMCID: PMC9249162. DOI: 10.3389/fped.2022.899991.
24 Ali Alghamdi M, Benabdelkamel H, Masood A, et al. Genomic, proteomic, and phenotypic spectrum of novel O-sialoglycoprotein endopeptidase variant in four affected individuals with Galloway-Mowat syndrome[J]. Front Genet, 2022, 13: 806190. PMID: 35812735. PMCID: PMC9259880. DOI: 10.3389/fgene.2022.806190.
25 杨莹, 陆妹, 沈彤, 等. OSGEP基因变异致Galloway-Mowat综合征1例并文献复习[J]. 中华新生儿科杂志(中英文), 2023, 38(5): 283-288. DOI: 10.3760/cma.j.issn.2096-2932.2023.05.006.
26 Esmaeilzadeh E, Moradi A, Khorram Khorshid HR. Whole-exome sequencing revealed a novel homozygous missense variant in OSGEP gene: a case report of Galloway-Mowat syndrome in Iran[J]. CEN Case Rep, 2023, 12(4): 374-377. PMID: 36856752. PMCID: PMC10620368. DOI: 10.1007/s13730-023-00775-w.
27 Hyun HS, Kim SH, Park E, et al. A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report[J]. BMC Med Genet, 2018, 19(1): 131. PMID: 30053862. PMCID: PMC6063015. DOI: 10.1186/s12881-018-0649-y.
28 史卓, 高春林, 夏正坤, 等. Galloway-Mowat综合征一例[J]. 中华肾脏病杂志, 2020, 36(2): 145-147. DOI: 10.3760/cma.j.issn.1001-7097.2020.02.012.
29 Treimer E, Kalayci T, Schumann S, et al. Functional characterization of a novel TP53RK mutation identified in a family with Galloway-Mowat syndrome[J]. Hum Mutat, 2022, 43(12): 1866-1871. PMID: 36116039. DOI: 10.1002/humu.24472.
30 Chen J, Ye GB, Huang JR, et al. Novel TP53RK variants cause varied clinical features of Galloway-Mowat syndrome without nephrotic syndrome in three unrelated Chinese patients[J]. Front Mol Neurosci, 2023, 16: 1116949. PMID: 36873107. PMCID: PMC9977797. DOI: 10.3389/fnmol.2023.1116949.
31 Braun DA, Shril S, Sinha A, et al. Mutations in WDR4 as a new cause of Galloway-Mowat syndrome[J]. Am J Med Genet A, 2018, 176(11): 2460-2465. PMID: 30079490. PMCID: PMC6289609. DOI: 10.1002/ajmg.a.40489.
32 Kim H, Lee H, Lee YM. A case of Galloway-Mowat syndrome with novel compound heterozygous variants in the WDR4 gene[J]. J Genet Med, 2020, 17(2): 97-101. DOI: 10.5734/JGM.2020.17.2.97.
33 Rosti RO, Sotak BN, Bielas SL, et al. Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome[J]. J Med Genet, 2017, 54(6): 399-403. PMID: 28280135. DOI: 10.1136/jmedgenet-2016-104237.
34 Braun DA, Lovric S, Schapiro D, et al. Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome[J]. J Clin Invest, 2018, 128(10): 4313-4328. PMID: 30179222. PMCID: PMC6159964. DOI: 10.1172/JCI98688.
35 Fujita A, Tsukaguchi H, Koshimizu E, et al. Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome[J]. Ann Neurol, 2018, 84(6): 814-828. PMID: 30427554. DOI: 10.1002/ana.25370.
36 Arrondel C, Missoury S, Snoek R, et al. Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome[J]. Nat Commun, 2019, 10(1): 3967. PMID: 31481669. PMCID: PMC6722078. DOI: 10.1038/s41467-019-11951-x.
37 Schmidt J, Goergens J, Pochechueva T, et al. Biallelic variants in YRDC cause a developmental disorder with progeroid features[J]. Hum Genet, 2021, 140(12): 1679-1693. PMID: 34545459. PMCID: PMC8553732. DOI: 10.1007/s00439-021-02347-3.
38 Tilley FC, Arrondel C, Chhuon C, et al. Disruption of pathways regulated by integrator complex in Galloway-Mowat syndrome due to WDR73 mutations[J]. Sci Rep, 2021, 11(1): 5388. PMID: 33686175. PMCID: PMC7940485. DOI: 10.1038/s41598-021-84472-7.
39 Li H, Liu F, Kuang H, et al. WDR73 depletion destabilizes PIP4K2C activity and impairs focal adhesion formation in Galloway-Mowat syndrome[J]. Biology (Basel), 2022, 11(10): 1397. PMID: 36290302. PMCID: PMC9598763. DOI: 10.3390/biology11101397.
40 Jin X, Guan Z, Hu N, et al. Structural insight into how WDR4 promotes the tRNA N7-methylguanosine methyltransferase activity of METTL1[J]. Cell Discov, 2023, 9(1): 65. PMID: 37369656. PMCID: PMC10300002. DOI: 10.1038/s41421-023-00562-y.
41 Li M, Yue Z, Lin H, et al. COQ2 mutation associated isolated nephropathy in two siblings from a Chinese pedigree[J]. Ren Fail, 2021, 43(1): 97-101. PMID: 33397173. PMCID: PMC7801106. DOI: 10.1080/0886022X.2020.1864402.
42 Abdelhakim AH, Dharmadhikari AV, Ragi SD, et al. Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency[J]. Orphanet J Rare Dis, 2020, 15(1): 320. PMID: 33187544. PMCID: PMC7662744. DOI: 10.1186/s13023-020-01600-8.
43 Nam DW, Park SS, Lee SM, et al. Effects of CoQ10 replacement therapy on the audiological characteristics of pediatric patients with COQ6 variants[J]. Biomed Res Int, 2022, 2022: 5250254. PMID: 36124066. PMCID: PMC9482153. DOI: 10.1155/2022/5250254.
44 Stallworth JY, Blair DR, Slavotinek A, et al. Retinopathy and optic atrophy in a case of COQ2-related primary coenzyme Q10 deficiency[J]. Ophthalmic Genet, 2023, 44(5): 486-490. PMID: 36420660. PMCID: PMC10205914. DOI: 10.1080/13816810.2022.2141792.
45 Wang N, Zheng Y, Zhang L, et al. A family segregating lethal primary coenzyme Q10 deficiency due to two novel COQ6 variants[J]. Front Genet, 2021, 12: 811833. PMID: 35111204. PMCID: PMC8802230. DOI: 10.3389/fgene.2021.811833.
46 Schijvens AM, van de Kar NC, Bootsma-Robroeks CM, et al. Mitochondrial disease and the kidney with a special focus on CoQ10 deficiency[J]. Kidney Int Rep, 2020, 5(12): 2146-2159. PMID: 33305107. PMCID: PMC7710892. DOI: 10.1016/j.ekir.2020.09.044.
47 Hiser W, Thirumala V, Wang J, et al. Pierson syndrome in an infant with congenital nephrotic syndrome and unique brain pathology[J]. Kidney Int Rep, 2020, 5(12): 2371-2374. PMID: 33305134. PMCID: PMC7710838. DOI: 10.1016/j.ekir.2020.09.023.
48 Suzuki R, Sakakibara N, Ichikawa Y, et al. Systematic review of clinical characteristics and genotype-phenotype correlation in LAMB2-associated disease[J]. Kidney Int Rep, 2023, 8(9): 1811-1821. PMID: 37705905. PMCID: PMC10496080. DOI: 10.1016/j.ekir.2023.06.019.
49 Nishiyama K, Kurokawa M, Torio M, et al. Gastrointestinal symptoms as an extended clinical feature of Pierson syndrome: a case report and review of the literature[J]. BMC Med Genet, 2020, 21(1): 80. PMID: 32295525. PMCID: PMC7160948. DOI: 10.1186/s12881-020-01019-9.
50 Lin MH, Miller JB, Kikkawa Y, et al. Laminin-521 protein therapy for glomerular basement membrane and podocyte abnormalities in a model of Pierson syndrome[J]. J Am Soc Nephrol, 2018, 29(5): 1426-1436. PMID: 29472414. PMCID: PMC5967757. DOI: 10.1681/ASN.2017060690.
51 Yang S, He Y, Zhou J, et al. Steroid-resistant nephrotic syndrome associated with certain SGPL1 variants in a family: case report and literature review[J]. Front Pediatr, 2023, 11: 1079758. PMID: 36873630. PMCID: PMC9978203. DOI: 10.3389/fped.2023.1079758.
52 Roa-Bautista A, Sohail M, Wakeling E, et al. Combined novel homozygous variants in both SGPL1 and STAT1 presenting with severe combined immune deficiency: case report and literature review[J]. Front Immunol, 2023, 14: 1186575. PMID: 37377976. PMCID: PMC10291229. DOI: 10.3389/fimmu.2023.1186575.
53 Tastemel Ozturk T, Canpolat N, Saygili S, et al. A rare cause of nephrotic syndrome-sphingosine-1-phosphate lyase (SGPL1) deficiency: 6 cases and a review of the literature[J]. Pediatr Nephrol, 2023, 38(3): 711-719. PMID: 35748945. DOI: 10.1007/s00467-022-05656-5.
54 Zhao P, Liu ID, Hodgin JB, et al. Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation[J]. J Inherit Metab Dis, 2020, 43(5): 1131-1142. PMID: 32233035. PMCID: PMC8072405. DOI: 10.1002/jimd.12238.
55 Gee HY, Saisawat P, Ashraf S, et al. ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling[J]. J Clin Invest, 2013, 123(8): 3243-3253. PMID: 23867502. PMCID: PMC3726174. DOI: 10.1172/JCI69134.
56 Lahrouchi N, George A, Ratbi I, et al. Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly[J]. Nat Commun, 2019, 10(1): 1180. PMID: 30862798. PMCID: PMC6414540. DOI: 10.1038/s41467-019-08547-w.
57 Fabretti F, Tschernoster N, Erger F, et al. Expanding the spectrum of FAT1 nephropathies by novel mutations that affect hippo signaling[J]. Kidney Int Rep, 2021, 6(5): 1368-1378. PMID: 34013115. PMCID: PMC8116753. DOI: 10.1016/j.ekir.2021.01.023.
58 朱春华, 张爱华. 儿童遗传性肾脏病[J]. 中华儿科杂志, 2021, 59(9): 804-806. PMID: 34645225. DOI: 10.3760/cma.j.cn112140-20210719-00600.
59 Hays T, Groopman EE, Gharavi AG. Genetic testing for kidney disease of unknown etiology[J]. Kidney Int, 2020, 98(3): 590-600. PMID: 32739203. PMCID: PMC7784921. DOI: 10.1016/j.kint.2020.03.031.
60 Alharbi SA, Alshenqiti AM, Asiri AH, et al. The role of genetic testing in pediatric renal diseases: diagnostic, prognostic, and social implications[J]. Cureus, 2023, 15(8): e44490. PMID: 37664254. PMCID: PMC10471834. DOI: 10.7759/cureus.44490.