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
Experimental and Therapeutic Medicine
Join Editorial Board Propose a Special Issue
Print ISSN: 1792-0981 Online ISSN: 1792-1015
Journal Cover
April-2016 Volume 11 Issue 4

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
April-2016 Volume 11 Issue 4

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
Case Report Open Access

Delayed diagnosis of Townes‑Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report

  • Authors:
    • Fu‑Jun Lin
    • Wei Lu
    • Daniel Gale
    • Yao Yao
    • Ren Zou
    • Fan Bian
    • Geng‑Ru Jiang
  • View Affiliations / Copyright

    Affiliations: Department of Nephrology, XinHua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200092, P.R. China, UCL Centre for Nephrology, Royal Free Campus, UCL Medical School, University College London, London NW3 2PF, United Kingdom, Department of Medical Ultrasound, XinHua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200092, P.R. China
    Copyright: © Lin et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 1249-1252
    |
    Published online on: January 29, 2016
       https://doi.org/10.3892/etm.2016.3035
  • 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

Townes‑Brocks syndrome (TBS) is a rare autosomal dominant congenital anomaly syndrome characterized by the triad of anorectal, hand and external ear malformations. Kidney involvement is less common and may progress to end‑stage renal failure (ESRF) early in life. The present study reports the case of a male patient presenting with multiple bilateral cortical kidney cysts at the age of 4 years, at which time the kidneys were of normal size and function. A clinical diagnosis of autosomal recessive polycystic kidney disease was made initially as the patient's parents are clinically healthy. However, the consideration of extra‑renal involvements (imperforate anus at birth, preaxial polydactyly and dysplastic right ear) following the progression of the patient to ESRF at the age of 16 years, led to the diagnosis of TBS. This prompted sequencing of the SALL1 gene, which identified a novel heterozygous nonsense mutation in the mutational ‘hotspot’ of exon 2 (c.874C>T, p.Q292X), and this mutation was not detected in healthy controls. The current case highlights that TBS may present with normal sized, cystic kidneys in childhood, while recognition of extra‑renal features of cystic kidney diseases, such as TBS, and genetic testing may facilitate the correct diagnosis and transmission mode. Reaching a correct diagnosis of as TBS is important since this condition has a 50% rate of transmission to offspring and can progress to ESRF early in life.
View Figures

Figure 1

Figure 2

View References

1 

Bergmann C: ARPKD and early manifestations of ADPKD: The original polycystic kidney disease and phenocopies. Pediatr Nephrol. 30:15–30. 2015. View Article : Google Scholar : PubMed/NCBI

2 

Ong AC, Devuyst O, Knebelmann B and Walz G: ERA-EDTA Working Group for Inherited Kidney Diseases. Autosomal dominant polycystic kidney disease: The changing face of clinical management. Lancet. 385:1993–2002. 2015. View Article : Google Scholar : PubMed/NCBI

3 

Schrier RW, Brosnahan G, Cadnapaphornchai MA, Chonchol M, Friend K, Gitomer B and Rossetti S: Predictors of autosomal dominant polycystic kidney disease progression. J Am Soc Nephrol. 25:2399–2418. 2014. View Article : Google Scholar : PubMed/NCBI

4 

Hoyer PF: Clinical manifestations of autosomal recessive polycystic kidney disease. Curr Opin Pediatr. 27:186–192. 2015. View Article : Google Scholar : PubMed/NCBI

5 

Devuyst O, Knoers NV, Remuzzi G and Schaefer F: Board of the Working Group for Inherited Kidney Diseases of the European Renal Association and European Dialysis and Transplant Association: Rare inherited kidney diseases: Challenges, opportunities, and perspectives. Lancet. 383:1844–1859. 2014. View Article : Google Scholar : PubMed/NCBI

6 

Hwang DY, Dworschak GC, Kohl S, Saisawat P, Vivante A, Hilger AC, Reutter HM, Soliman NA, Bogdanovic R, Kehinde EO, et al: Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract. Kidney Int. 85:1429–1433. 2014. View Article : Google Scholar : PubMed/NCBI

7 

Kiser RL, Wolf MT, Martin JL, Zalewski I, Attanasio M, Hildebrandt F and Klemmer P: Medullary cystic kidney disease type 1 in a large Native-American kindred. Am J Kidney Dis. 44:611–617. 2004. View Article : Google Scholar : PubMed/NCBI

8 

Luk WH, Lo AX, Au-Yeung AW, Liu KK, Woo YH, Chiang CC and Lo KK: Renal length nomogram in Hong Kong Asian children: Sonographic measurement and multivariable approach. J Paediatr Child Health. 46:310–315. 2010. View Article : Google Scholar : PubMed/NCBI

9 

Miller EM, Hopkin R, Bao L and Ware SM: Implications for genotype-phenotype predictions in Townes-Brocks syndrome: Case report of a novel SALL1 deletion and review of the literature. Am J Med Genet A. 158A:533–540. 2012. View Article : Google Scholar : PubMed/NCBI

10 

Reardon W, Casserly LF, Birkenhäger R and Kohlhase J: Kidney failure in Townes-Brocks syndrome: An under recognized phenomenon? Am J Med Genet A. 143A:2588–2591. 2007. View Article : Google Scholar : PubMed/NCBI

11 

Kohlhase J, Taschner PE, Burfeind P, Pasche B, Newman B, Blanck C, Breuning MH, ten Kate LP, Maaswinkel-Mooy P, Mitulla B, et al: Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. Am J Hum Genet. 64:435–445. 1999. View Article : Google Scholar : PubMed/NCBI

12 

Eker HK and Balasar Ö: Variable expressivity of renal involvement in a further family with Townes-Brocks syndrome. Clin Dysmorphol. 24:24–25. 2015. View Article : Google Scholar : PubMed/NCBI

13 

Lawrence C, Hong-McAtee I, Hall B, Hartsfield J, Rutherford A, Bonilla T and Bay C: Endocrine abnormalities in Townes-Brocks syndrome. Am J Med Genet A. 161A:2266–2273. 2013. View Article : Google Scholar : PubMed/NCBI

14 

Albrecht B, Liebers M and Kohlhase J: Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation. Am J Med Genet A. 125A:102–104. 2014. View Article : Google Scholar

15 

Kohlhase J, Wischermann A, Reichenbach H, Froster U and Engel W: Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. Nat Genet. 18:81–83. 1998. View Article : Google Scholar : PubMed/NCBI

16 

Basta JM, Robbins L, Kiefer SM, Dorsett D and Rauchman M: Sall1 balances self-renewal and differentiation of renal progenitor cells. Development. 141:1047–1058. 2014. View Article : Google Scholar : PubMed/NCBI

17 

Nishinakamura R, Matsumoto Y, Nakao K, Nakamura K, Sato A, Copeland NG, Gilbert DJ, Jenkins NA, Scully S, Lacey DL, et al: Murine homolog of SALL1 is essential for ureteric bud invasion in kidney development. Development. 128:3105–3115. 2001.PubMed/NCBI

18 

Kiefer SM, Ohlemiller KK, Yang J, McDill BW, Kohlhase J and Rauchman M: Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects. Hum Mol Genet. 12:2221–2227. 2003. View Article : Google Scholar : PubMed/NCBI

19 

Faguer S, Pillet A, Chassaing N, Merhenberger M, Bernadet-Monrozies P, Guitard J and Chauveau D: Nephropathy in Townes-Brocks syndrome (SALL1 mutation): Imaging and pathological findings in adulthood. Nephrol Dial Transplant. 24:1341–1345. 2009. View Article : Google Scholar : PubMed/NCBI

20 

Weber S, Moriniere V, Knüppel T, Charbit M, Dusek J, Ghiggeri GM, Jankauskiené A, Mir S, Montini G, Peco-Antic A, et al: Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: Results of the ESCAPE study. J Am Soc Nephrol. 17:2864–2870. 2006. View Article : Google Scholar : PubMed/NCBI

21 

Hwang DY, Dworschak GC , Kohl S, Saisawat P, Vivante A, Hilger AC, Reutter HM, Soliman NA, Bogdanovic R, Kehinde EO, et al: Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract. Kidney Int. 85:1429–1433. 2014.

22 

Botzenhart EM, Bartalini G, Blair E, Brady AF, Elmslie F, Chong KL, Christy K, Torres-Martinez W, Danesino C, Deardorff MA, et al: Townes-Brocks syndrome: Twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. Hum Mutat. 28:204–205. 2007. View Article : Google Scholar : PubMed/NCBI

23 

Morisada N, Sekine T, Ishimori S, Tsuda M, Adachi M, Nozu K, Nakanishi K, Tanaka R and Iijima K: 16q12 microdeletion syndrome in two Japanese boys. Pediatr Int. 56:e75–e78. 2014. View Article : Google Scholar : PubMed/NCBI

24 

Solomon BD: VACTERL/VATER association. Orphanet J Rare Dis. 6:562011. View Article : Google Scholar : PubMed/NCBI

25 

Ashokan CS, Sreenivasan A and Saraswathy GK: Goldenhar syndrome-review with case series. J Clin Diagn Res. 8:ZD17–ZD19. 2014.PubMed/NCBI

26 

Engels S, Kohlhase J and McGaughran J: A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype. J Med Genet. 37:458–460. 2000. View Article : Google Scholar : PubMed/NCBI

Related Articles

  • Abstract
  • View
  • Download
  • Twitter
Copy and paste a formatted citation
Spandidos Publications style
Lin FJ, Lu W, Gale D, Yao Y, Zou R, Bian F and Jiang GR: Delayed diagnosis of Townes‑Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report. Exp Ther Med 11: 1249-1252, 2016.
APA
Lin, F., Lu, W., Gale, D., Yao, Y., Zou, R., Bian, F., & Jiang, G. (2016). Delayed diagnosis of Townes‑Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report. Experimental and Therapeutic Medicine, 11, 1249-1252. https://doi.org/10.3892/etm.2016.3035
MLA
Lin, F., Lu, W., Gale, D., Yao, Y., Zou, R., Bian, F., Jiang, G."Delayed diagnosis of Townes‑Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report". Experimental and Therapeutic Medicine 11.4 (2016): 1249-1252.
Chicago
Lin, F., Lu, W., Gale, D., Yao, Y., Zou, R., Bian, F., Jiang, G."Delayed diagnosis of Townes‑Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report". Experimental and Therapeutic Medicine 11, no. 4 (2016): 1249-1252. https://doi.org/10.3892/etm.2016.3035
Copy and paste a formatted citation
x
Spandidos Publications style
Lin FJ, Lu W, Gale D, Yao Y, Zou R, Bian F and Jiang GR: Delayed diagnosis of Townes‑Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report. Exp Ther Med 11: 1249-1252, 2016.
APA
Lin, F., Lu, W., Gale, D., Yao, Y., Zou, R., Bian, F., & Jiang, G. (2016). Delayed diagnosis of Townes‑Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report. Experimental and Therapeutic Medicine, 11, 1249-1252. https://doi.org/10.3892/etm.2016.3035
MLA
Lin, F., Lu, W., Gale, D., Yao, Y., Zou, R., Bian, F., Jiang, G."Delayed diagnosis of Townes‑Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report". Experimental and Therapeutic Medicine 11.4 (2016): 1249-1252.
Chicago
Lin, F., Lu, W., Gale, D., Yao, Y., Zou, R., Bian, F., Jiang, G."Delayed diagnosis of Townes‑Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report". Experimental and Therapeutic Medicine 11, no. 4 (2016): 1249-1252. https://doi.org/10.3892/etm.2016.3035
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