Genetic study of Alport syndrome in Tunisia

Savige J, Storey H, Watson E et al (2021) Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria. Eur J Hum Genet 29:1186–1197. https://doi.org/10.1038/s41431-021-00858-1

Article  CAS  PubMed  PubMed Central  Google Scholar 

Nozu K, Nakanishi K, Abe Y et al (2019) A review of clinical characteristics and genetic backgrounds in Alport syndrome. Clin Exp Nephrol 23:158–168. https://doi.org/10.1007/s10157-018-1629-4

Article  PubMed  Google Scholar 

Warady BA, Agarwal R, Bangalore S et al (2020) Alport syndrome classification and management. Kidney Med 2:639–649. https://doi.org/10.1016/j.xkme.2020.05.014

Article  PubMed  PubMed Central  Google Scholar 

Savige J, Renieri A, Ars E et al (2022) Digenic Alport syndrome. Clin J Am Soc Nephrol 17:1697–1706. https://doi.org/10.2215/CJN.03120322

Article  CAS  PubMed  PubMed Central  Google Scholar 

Vos P, Zietse R, van Geel M, Brooks AS, Cransberg K (2018) Diagnosing Alport syndrome: lessons from the pediatric ward. Nephron 140:203–210. https://doi.org/10.1159/000492438

Article  PubMed  Google Scholar 

Kashtan CE, Gross O (2021) Clinical practice recommendations for the diagnosis and management of Alport syndrome in children, adolescents, and young adults–an update for 2020. Pediatr Nephrol 36:711–719. https://doi.org/10.1007/s00467-020-04819-6

Article  PubMed  Google Scholar 

Lagona E, Tsartsali L, Kostaridou S, Skiathitou A, Georgaki E, Sotsiou F (2008) Skin biopsy for the diagnosis of Alport syndrome. Hippokratia 12:116–118

CAS  PubMed  PubMed Central  Google Scholar 

Pedrosa AL, Bitencourt L, Paranhos RM, Leitáo CA, Ferreira GC, Simões E, Silva AC (2021) Alport syndrome: a comprehensive review on genetics, pathophysiology, histology, clinical and therapeutic perspectives. Curr Med Chem 28:5602–5624. https://doi.org/10.2174/0929867328666210108113500

Article  CAS  PubMed  Google Scholar 

Savige J, Ariani F, Mari F et al (2019) Expert consensus guidelines for the genetic diagnosis of Alport syndrome. Pediatr Nephrol 34:1175–1189. https://doi.org/10.1007/s00467-018-3985-4

Article  PubMed  Google Scholar 

Savige J, Lipska-Zietkiewicz BS, Watson E et al (2022) Guidelines for genetic testing and management of Alport syndrome. Clin J Am Soc Nephrol 17:143–154. https://doi.org/10.2215/CJN.04230321

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kopanos C, Tsiolkas V, Kouris A et al (2019) VarSome: the human genomic variant search engine. Bioinformatics 35:1978–1980. https://doi.org/10.1093/bioinformatics/bty897

Article  CAS  PubMed  Google Scholar 

Kumar P, Henikoff S, Ng PC (2009) Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 4:1073–1081. https://doi.org/10.1038/nprot.2009.86

Article  CAS  PubMed  Google Scholar 

Adzhubei IA, Schmidt S, Peshkin L et al (2010) A method and server for predicting damaging missense mutations. Nat Methods 7:248–249. https://doi.org/10.1038/nmeth0410-248

Article  CAS  PubMed  PubMed Central  Google Scholar 

Li B, Krishnan VG, Mort ME et al (2009) Automated inference of molecular mechanisms of disease from amino acid substitutions. Bioinformatics 25:2744–2750. https://doi.org/10.1093/bioinformatics/btp528

Article  CAS  PubMed  PubMed Central  Google Scholar 

Desmet FO, Hamroun D, Lalande M, Collod-Béroud G, Claustres M, Béroud C (2009) Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res 37:e67. https://doi.org/10.1093/nar/gkp215

Article  CAS  PubMed  PubMed Central  Google Scholar 

Reese MG, Eeckman FH, Kulp D, Haussler D (1997) Improved splice site detection in Genie. J Comput Biol 4:311–323. https://doi.org/10.1089/cmb.1997.4.311

Article  CAS  PubMed  Google Scholar 

Yeo G, Burge CB (2004) Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. J Comput Biol 11:377–394. https://doi.org/10.1089/1066527041410418

Article  CAS  PubMed  Google Scholar 

Hebsgaard S (1996) Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information. Nucleic Acids Res 24:3439–3452. https://doi.org/10.1093/nar/24.17.3439

Article  CAS  PubMed  PubMed Central  Google Scholar 

Schwarz JM, Cooper DN, Schuelke M, Seelow D (2014) MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods 11:361–362. https://doi.org/10.1038/nmeth.2890

Article  CAS  PubMed  Google Scholar 

Gibson J, Fieldhouse R, Chan MMY et al (2021) Prevalence estimates of predicted pathogenic COL4A3–COL4A5 variants in a population sequencing database and their implications for Alport syndrome. J Am Soc Nephrol 32:2273–2290. https://doi.org/10.1681/ASN.2020071065

Article  PubMed  PubMed Central  Google Scholar 

Savige J (2022) Heterozygous pathogenic COL4A3 and COL4A4 variants (autosomal dominant Alport syndrome) are common, and not typically associated with end-stage kidney failure, hearing loss, or ocular abnormalities. Kidney Int Rep 7:1933–1938. https://doi.org/10.1016/j.ekir.2022.06.001

Article  PubMed  PubMed Central  Google Scholar 

Gregorio VD, Caparali EB, Shojaei A, Ricardo S, Barua M (2023) Alport syndrome: clinical spectrum and therapeutic advances. Kidney Med 5:100631. https://doi.org/10.1016/j.xkme.2023.100631

Article  PubMed  PubMed Central  Google Scholar 

Mezzi N, Messaoud O, Mkaouar R et al (2021) Spectrum of genetic diseases in Tunisia: current situation and main milestones achieved. Genes 12:1820. https://doi.org/10.3390/genes12111820

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ben Halim N, Ben AlayaBouafif N, Romdhane L et al (2013) Consanguinity, endogamy, and genetic disorders in Tunisia. J Community Genet 4:273–284. https://doi.org/10.1007/s12687-012-0128-7

Article  PubMed  Google Scholar 

Romdhane L, Messaoud O, Bouyacoub Y et al (2016) Comorbidity in the Tunisian population: comorbidity in the Tunisian population. Clin Genet 89:312–319. https://doi.org/10.1111/cge.12616

Article  CAS  PubMed  Google Scholar 

Nagara M, Tiar A, Ben Halim N et al (2013) Mutation spectrum of primary hyperoxaluria type 1 in Tunisia: implication for diagnosis in North Africa. Gene 527:316–320. https://doi.org/10.1016/j.gene.2013.06.023

Article  CAS  PubMed  Google Scholar 

Fallerini C, Baldassarri M, Trevisson E et al (2017) Alport syndrome: impact of digenic inheritance in patients management: Alport syndrome. Clin Genet 92:34–44. https://doi.org/10.1111/cge.12919

Article  CAS  PubMed  Google Scholar 

Morinière V, Dahan K, Hilbert P et al (2014) Improving mutation screening in familial hematuric nephropathies through next generation sequencing. J Am Soc Nephrol 25:2740–2751. https://doi.org/10.1681/ASN.2013080912

Article  CAS  PubMed  PubMed Central 

Comments (0)

No login
gif