Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Oncology Letters
      • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Biomedical Reports
      • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • Information for Authors
    • Information for Reviewers
    • Information for Librarians
    • Information for Advertisers
    • Conferences
  • Language Editing
Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • For Authors
    • For Reviewers
    • For Librarians
    • For Advertisers
    • Conferences
  • Language Editing
Login Register Submit
  • This site uses cookies
  • You can change your cookie settings at any time by following the instructions in our Cookie Policy. To find out more, you may read our Privacy Policy.

    I agree
Search articles by DOI, keyword, author or affiliation
Search
Advanced Search
presentation
Biomedical Reports
Join Editorial Board Propose a Special Issue
Print ISSN: 2049-9434 Online ISSN: 2049-9442
Journal Cover
January-2022 Volume 16 Issue 1

Full Size Image

Sign up for eToc alerts
Recommend to Library

Journals

International Journal of Molecular Medicine

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

Medicine International

Medicine International

An International Open Access Journal Devoted to General Medicine.

Journal Cover
January-2022 Volume 16 Issue 1

Full Size Image

Sign up for eToc alerts
Recommend to Library

  • Article
  • Citations
    • Cite This Article
    • Download Citation
    • Create Citation Alert
    • Remove Citation Alert
    • Cited By
  • Similar Articles
    • Related Articles (in Spandidos Publications)
    • Similar Articles (Google Scholar)
    • Similar Articles (PubMed)
  • Download PDF
  • Download XML
  • View XML

  • Supplementary Files
    • Supplementary_Data.pdf
Case Report Open Access

Congenital nephrotic syndrome in a Hispanic Guatemalan newborn associated with a NPHS1 variant: A case report

  • Authors:
    • Thu T. Tran
    • Vijay G. Linga
    • Mohammed A.I. Al‑Obaide
    • Daniella Bello‑Germino
    • Mehar Hoda
    • Olubukunola Adesanya
    • Tetyana L. Vasylyeva
  • View Affiliations / Copyright

    Affiliations: Department of Pediatrics, Texas Tech University Health Sciences Center, Amarillo, TX 79106, USA
    Copyright: © Tran et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Article Number: 4
    |
    Published online on: November 16, 2021
       https://doi.org/10.3892/br.2021.1487
  • Expand metrics +
Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )
Cited By (CrossRef): 0 citations Loading Articles...

This article is mentioned in:



Abstract

Congenital nephrotic syndrome (CNS) is an autosomal recessive disorder usually detected in the first 3 months of life when the syndromes effects manifest, including edema and a failure to gain weight. A baby boy was admitted to the Neonatal Intensive Care Unit for prematurity (35 weeks) with unremarkable maternal prenatal laboratory tests. The patient had persistent systemic hypertension, hypoproteinemia, hypoalbuminemia and nephrotic range proteinuria. CNS was diagnosed, and genetic testing showed a homozygous variant, c.3024A>G (AGA>AGG) in exon 22 of the nephrin locus. Bioinformatics analysis suggested the genetic condition was likely a result of malfunctional DNA binding sites of transcription factors FOXL1 and FOXC1.
View Figures

Figure 1

View References

1 

Jalanko H: Congenital nephrotic syndrome. Pediatr Nephrol. 24:2121–2128. 2009.PubMed/NCBI View Article : Google Scholar

2 

Bolk S, Puffenberger EG, Hudson J, Morton DH and Chakravarti A: Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites. Am J Hum Genet. 65:1785–1790. 1999.PubMed/NCBI View Article : Google Scholar

3 

Preston R, Stuart HM and Lennon R: Genetic testing in steroid-resistant nephrotic syndrome: Why, who, when and how? Pediatr Nephrol. 34:195–210. 2019.PubMed/NCBI View Article : Google Scholar

4 

Fogo AB, Lusco MA, Najafian B and Alpers CE: AJKD Atlas of Renal Pathology: Congenital nephrotic syndrome of finnish type. Am J Kidney Dis. 66:e11–e12. 2015.PubMed/NCBI View Article : Google Scholar

5 

Gigante M, Piemontese M, Gesualdo L, Iolascon A and Aucella F: Molecular and genetic basis of inherited nephrotic syndrome. Int J Nephrol. 2011(792195)2011.PubMed/NCBI View Article : Google Scholar

6 

Golob V, Nosan G, Bertok S, Frelih M, Boštjanči E and Rus R: A novel mutation of congenital nephrotic syndrome in a Slovenian child eventually receiving a renal transplant. Croat Med J. 62:187–191. 2021.PubMed/NCBI View Article : Google Scholar

7 

Khan A, Fornes O, Stigliani A, Gheorghe M, Castro-Mondragon JA, van der Lee R, Bessy A, Chèneby J, Kulkarni SR, Tan G, et al: JASPAR 2018: Update of the open-access database of transcription factor binding profiles and its web framework. Nucleic Acids Res. 46:D260–D266. 2018.PubMed/NCBI View Article : Google Scholar

8 

Fornes O, Castro-Mondragon JA, Khan A, van der Lee R, Zhang X, Richmond PA, Modi BP, Correard S, Gheorghe M, Baranašić D, et al: JASPAR 2020: Update of the open-access database of transcription factor binding profiles. Nucleic Acids Res. 48:D87–D92. 2020.PubMed/NCBI View Article : Google Scholar

9 

Krull M, Petrusma M, Makalowski W, Brosius J and Schmitz J: Functional persistence of exonized mammalian-wide interspersed repeat elements (MIRs). Genome Res. 17:1139–1145. 2007.PubMed/NCBI View Article : Google Scholar

10 

Jjingo D, Conley AB, Wang J, Mariño-Ramírez L, Lunyak VV and Jordan IK: Mammalian-wide interspersed repeat (MIR)-derived enhancers and the regulation of human gene expression. Mob DNA. 5(14)2014.PubMed/NCBI View Article : Google Scholar

11 

Khan MT, Ali S, Zeb MT, Kaushik AC, Malik SI and Wei DQ: Gibbs free energy calculation of mutation in pnca and rpsa associated with pyrazinamide resistance. Front Mol Biosci. 7(52)2020.PubMed/NCBI View Article : Google Scholar

12 

Al Qahtani NH, AbdulAzeez S, Almandil NB, Fahad Alhur N, Alsuwat HS, Al Taifi HA, Al-Ghamdi AA, Rabindran Jermy B, Abouelhoda M, Subhani S, et al: Whole-genome sequencing reveals exonic variation of ASIC5 gene results in recurrent pregnancy loss. Front Med (Lausanne). 8(699672)2021.PubMed/NCBI View Article : Google Scholar

13 

Majidi S, Fouts A, Pyle L, Chambers C, Armstrong T, Wang Z, Batish SD, Klingensmith G and Steck AK: Can biomarkers help target maturity-onset diabetes of the young genetic testing in antibody-negative diabetes? Diabetes Technol Ther. 20:106–112. 2018.PubMed/NCBI View Article : Google Scholar

14 

Caridi G, Gigante M, Ravani P, Trivelli A, Barbano G, Scolari F, Dagnino M, Murer L, Murtas C, Edefonti A, et al: Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations. Clin J Am Soc Nephrol. 4:1065–1072. 2009.PubMed/NCBI View Article : Google Scholar

15 

Golson ML and Kaestner KH: Fox transcription factors: From development to disease. Development. 143:4558–4570. 2016.PubMed/NCBI View Article : Google Scholar

16 

Katoh M and Katoh M: Human FOX gene family (Review). Int J Oncol. 25:1495–1500. 2004.PubMed/NCBI

17 

Neznanov N, Umezawa A and Oshima RG: A regulatory element within a coding exon modulates keratin 18 gene expression in transgenic mice. J Biol Chem. 272:27549–27557. 1997.PubMed/NCBI View Article : Google Scholar

18 

Fiszbein A, Krick KS, Begg BE and Burge CB: Exon-mediated activation of transcription starts. Cell. 179:1551–1565.e17. 2019.PubMed/NCBI View Article : Google Scholar

19 

Stergachis AB, Haugen E, Shafer A, Fu W, Vernot B, Reynolds A, Raubitschek A, Ziegler S, LeProust EM, Akey JM, et al: Exonic transcription factor binding directs codon choice and affects protein evolution. Science. 342:1367–1372. 2013.PubMed/NCBI View Article : Google Scholar

20 

Waldrop E, Al-Obaide MAI and Vasylyeva TL: GANAB and PKD1 variations in a 12 years old female patient with early onset of autosomal dominant polycystic kidney disease. Front Genet. 10(44)2019.PubMed/NCBI View Article : Google Scholar

21 

Khan AH, Lin A and Smith DJ: Discovery and characterization of human exonic transcriptional regulatory elements. PLoS One. 7(e46098)2012.PubMed/NCBI View Article : Google Scholar

22 

Castellanos M, Mothi N and Muñoz V: Eukaryotic transcription factors can track and control their target genes using DNA antennas. Nat Commun. 11(540)2020.PubMed/NCBI View Article : Google Scholar

23 

Fontrodona N, Aubé F, Claude JB, Polvèche H, Lemaire S, Tranchevent LC, Modolo L, Mortreux F, Bourgeois CF and Auboeuf D: Interplay between coding and exonic splicing regulatory sequences. Genome Res. 29:711–722. 2019.PubMed/NCBI View Article : Google Scholar

24 

Joynt AT, Evans TA, Pellicore MJ, Davis-Marcisak EF, Aksit MA, Eastman AC, Patel SU, Paul KC, Osorio DL, Bowling AD, et al: Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies. PLoS Genet. 16(e1009100)2020.PubMed/NCBI View Article : Google Scholar

25 

National Center for Biotechnology Information: Genomic variation as it relates to human health (ClinVar); [VCV000429811.3]. Available from: https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000429811.3. Accessed October 24, 2021.

26 

Roca X, Sachidanandam R and Krainer AR: Intrinsic differences between authentic and cryptic 5' splice sites. Nucleic Acids Res. 31:6321–6333. 2003.PubMed/NCBI View Article : Google Scholar

27 

Anna A and Monika G: Splicing mutations in human genetic disorders: Examples, detection, and confirmation. J Appl Genet. 59:253–268. 2018.PubMed/NCBI View Article : Google Scholar

Related Articles

  • Abstract
  • View
  • Download
  • Twitter
Copy and paste a formatted citation
Spandidos Publications style
Tran TT, Linga VG, Al‑Obaide MA, Bello‑Germino D, Hoda M, Adesanya O and Vasylyeva TL: Congenital nephrotic syndrome in a Hispanic Guatemalan newborn associated with a <em>NPHS1</em> variant: A case report. Biomed Rep 16: 4, 2022.
APA
Tran, T.T., Linga, V.G., Al‑Obaide, M.A., Bello‑Germino, D., Hoda, M., Adesanya, O., & Vasylyeva, T.L. (2022). Congenital nephrotic syndrome in a Hispanic Guatemalan newborn associated with a <em>NPHS1</em> variant: A case report. Biomedical Reports, 16, 4. https://doi.org/10.3892/br.2021.1487
MLA
Tran, T. T., Linga, V. G., Al‑Obaide, M. A., Bello‑Germino, D., Hoda, M., Adesanya, O., Vasylyeva, T. L."Congenital nephrotic syndrome in a Hispanic Guatemalan newborn associated with a <em>NPHS1</em> variant: A case report". Biomedical Reports 16.1 (2022): 4.
Chicago
Tran, T. T., Linga, V. G., Al‑Obaide, M. A., Bello‑Germino, D., Hoda, M., Adesanya, O., Vasylyeva, T. L."Congenital nephrotic syndrome in a Hispanic Guatemalan newborn associated with a <em>NPHS1</em> variant: A case report". Biomedical Reports 16, no. 1 (2022): 4. https://doi.org/10.3892/br.2021.1487
Copy and paste a formatted citation
x
Spandidos Publications style
Tran TT, Linga VG, Al‑Obaide MA, Bello‑Germino D, Hoda M, Adesanya O and Vasylyeva TL: Congenital nephrotic syndrome in a Hispanic Guatemalan newborn associated with a <em>NPHS1</em> variant: A case report. Biomed Rep 16: 4, 2022.
APA
Tran, T.T., Linga, V.G., Al‑Obaide, M.A., Bello‑Germino, D., Hoda, M., Adesanya, O., & Vasylyeva, T.L. (2022). Congenital nephrotic syndrome in a Hispanic Guatemalan newborn associated with a <em>NPHS1</em> variant: A case report. Biomedical Reports, 16, 4. https://doi.org/10.3892/br.2021.1487
MLA
Tran, T. T., Linga, V. G., Al‑Obaide, M. A., Bello‑Germino, D., Hoda, M., Adesanya, O., Vasylyeva, T. L."Congenital nephrotic syndrome in a Hispanic Guatemalan newborn associated with a <em>NPHS1</em> variant: A case report". Biomedical Reports 16.1 (2022): 4.
Chicago
Tran, T. T., Linga, V. G., Al‑Obaide, M. A., Bello‑Germino, D., Hoda, M., Adesanya, O., Vasylyeva, T. L."Congenital nephrotic syndrome in a Hispanic Guatemalan newborn associated with a <em>NPHS1</em> variant: A case report". Biomedical Reports 16, no. 1 (2022): 4. https://doi.org/10.3892/br.2021.1487
Follow us
  • Twitter
  • LinkedIn
  • Facebook
About
  • Spandidos Publications
  • Careers
  • Cookie Policy
  • Privacy Policy
How can we help?
  • Help
  • Live Chat
  • Contact
  • Email to our Support Team