Aberrant Splicing of COL4A5 Intronic Variant Contribute to the Pathogenesis of X-Linked Alport Syndrome: A Case Series

References

• Kashtan CE, Ding J, Garosi G, et al. Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport syndrome classification working group. Kidney Int. 2018;93(5):1045–1051. doi:10.1016/j.kint.2017.12.018
   PubMed Web of Science ®Google Scholar
• Nozu K, Nakanishi K, Abe Y, et al. A review of clinical characteristics and genetic backgrounds in Alport syndrome. Clin Exp Nephrol. 2019;23(2):158–168. doi:10.1007/s10157-018-1629-4
   PubMed Web of Science ®Google Scholar
• Savige J, Gregory M, Gross O, Kashtan C, Ding J, Flinter F. Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy. J Am Soc Nephrol. 2013;24(3):364–375. doi:10.1681/asn.2012020148
   PubMed Web of Science ®Google Scholar
• Heidet L, Arrondel C, Forestier L, et al. Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome. J Am Soc Nephrol. 2001;12(1):97–106. doi:10.1681/asn.V12197
   PubMed Web of Science ®Google Scholar
• Feingold J, Bois E, Chompret A, Broyer M, Gubler MC, Grünfeld JP. Genetic heterogeneity of Alport syndrome. Kidney Int. 1985;27(4):672–677. doi:10.1038/ki.1985.63
   PubMed Web of Science ®Google Scholar
• Jais JP, Knebelmann B, Giatras I, et al. X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males. J Am Soc Nephrol. 2000;11(4):649–657. doi:10.1681/asn.V114649
   PubMed Web of Science ®Google Scholar
• Yamamura T, Horinouchi T, Nagano C, et al. Genotype-phenotype correlations influence the response to angiotensin-targeting drugs in Japanese patients with male X-linked Alport syndrome. Kidney Int. 2020;98(6):1605–1614. doi:10.1016/j.kint.2020.06.038
   PubMed Web of Science ®Google Scholar
• Bekheirnia MR, Reed B, Gregory MC, et al. Genotype-phenotype correlation in X-linked Alport syndrome. J Am Soc Nephrol. 2010;21(5):876–883. doi:10.1681/asn.2009070784
   PubMed Web of Science ®Google Scholar
• Yamamura T, Nozu K, Fu XJ, et al. natural history and genotype-phenotype correlation in female X-Linked Alport Syndrome. Kidney Int Rep. 2017;2(5):850–855. doi:10.1016/j.ekir.2017.04.011
   PubMed Web of Science ®Google Scholar
• Jais JP, Knebelmann B, Giatras I, et al. X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a “European Community Alport Syndrome Concerted Action” study. J Am Soc Nephrol. 2003;14(10):2603–2610. doi:10.1097/01.asn.0000090034.71205.74
   PubMed Web of Science ®Google Scholar
• Savige J, Storey H, Watson E, et al. Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria. Eur J Hum Genet. 2021;29(8):1186–1197. doi:10.1038/s41431-021-00858-1
   PubMed Web of Science ®Google Scholar
• Horinouchi T, Nozu K, Yamamura T, et al. Detection of splicing abnormalities and genotype-phenotype Correlation in X-linked Alport Syndrome. J Am Soc Nephrol. 2018;29(8):2244–2254. doi:10.1681/asn.2018030228
   PubMed Web of Science ®Google Scholar
• K/DOQI clinical practice guidelines for bone metabolism and disease in chronic kidney disease. Am J Kidney Dis. 2003;42(4 Suppl 3).
   Web of Science ®Google Scholar
• Churg J, Sherman RL. Pathologic characteristics of hereditary nephritis. Arch Pathol. 1973;95(6):374–379.
   PubMedGoogle Scholar
• Pierides A, Voskarides K, Athanasiou Y, et al. Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/ COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidney disease from focal segmental glomerulosclerosis. Nephrol Dial Transp. 2009;24(9):2721–2729. doi:10.1093/ndt/gfp158
   PubMed Web of Science ®Google Scholar
• Kashtan CE. Alport Syndrome: Achieving early diagnosis and treatment. Am J Kidney Dis. 2021;77(2):272–279. doi:10.1053/j.ajkd.2020.03.026
   PubMed Web of Science ®Google Scholar
• Gibson JT, de Gooyer M, Huang M, Savige J. A systematic review of pathogenic COL4A5 variants and proteinuria in women and girls with X-linked Alport Syndrome. Kidney Int Rep. 2022;7(11):2454–2461. doi:10.1016/j.ekir.2022.08.021
   PubMed Web of Science ®Google Scholar
• Migeon BR. X inactivation, female mosaicism, and sex differences in renal diseases. J Am Soc Nephrol. 2008;19(11):2052–2059. doi:10.1681/asn.2008020198
   PubMed Web of Science ®Google Scholar
• Temme J, Peters F, Lange K, et al. Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations. Kidney Int. 2012;81(8):779–783. doi:10.1038/ki.2011.452
   PubMed Web of Science ®Google Scholar
• Gross O, Netzer KO, Lambrecht R, Seibold S, Weber M. Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling. Nephrol Dial Transp. 2002;17(7):1218–1227. doi:10.1093/ndt/17.7.1218
   PubMed Web of Science ®Google Scholar
• Guo C, Van Damme B, Vanrenterghem Y, Devriendt K, Cassiman JJ, Marynen P. Severe Alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele. J Clin Invest. 1995;95(4):1832–1837. doi:10.1172/jci117862
   PubMed Web of Science ®Google Scholar
• Vetrie D, Flinter F, Bobrow M, Harris A. X inactivation patterns in females with Alport’s syndrome: a means of selecting against a deleterious gene? J Med Genet. 1992;29(9):663–666. doi:10.1136/jmg.29.9.663
   PubMed Web of Science ®Google Scholar
• Kalmár T, Turkevi-Nagy S, Bitó L, et al. Phenotype-genotype correlations in three different cases of adult-onset genetic focal segmental glomerulosclerosis. Int J Mol Sci. 24(24). doi:10.3390/ijms242417489
   Web of Science ®Google Scholar
• Savige J, Huang M, Croos Dabrera MS, Shukla K, Gibson J. Genotype-Phenotype Correlations for Pathogenic COL4A3-COL4A5 Variants in X-Linked, Autosomal Recessive, and Autosomal Dominant Alport Syndrome. Front Med Lausanne. 2022;9:865034. doi:10.3389/fmed.2022.865034
   PubMed Web of Science ®Google Scholar
• Malone AF, Funk SD, Alhamad T, Miner JH. Functional assessment of a novel COL4A5 splice region variant and immunostaining of plucked hair follicles as an alternative method of diagnosis in X-linked Alport syndrome. Pediatr Nephrol. 2017;32(6):997–1003. doi:10.1007/s00467-016-3565-4
   PubMed Web of Science ®Google Scholar