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When is biopsy-proven TIN not simply TIN? Answers

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References

  1. Maria BL, Quisling RG, Rosainz LC, Yachnis AT, Gitten J, Dede D, Fennell E (1999) Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance. J Child Neurol 14:368–376

    Article  CAS  PubMed  Google Scholar 

  2. Patel S, Barkovich AJ (2002) Analysis and classification of cerebellar malformations. Am J Neuroradiol 23:1074–1087

    PubMed  Google Scholar 

  3. Dirik MA, Yiş U, Dirik E (2013) Molar tooth sign is not pathognomonic for Joubert syndrome. Pediatr Neurol 49:515–516

    Article  PubMed  Google Scholar 

  4. Poretti A, Boltshauser E, Valente EM (2014) The molar tooth sign is pathognomonic for Joubert syndrome! Pediatr Neurol 50:e15

    Article  PubMed  Google Scholar 

  5. Brancati F, Dallapiccola B, Valente EM (2010) Review Joubert Syndrome and related disorders. Orphanet J Rare Dis 5:20–29

    Article  PubMed  PubMed Central  Google Scholar 

  6. Boltshauser E, Herdan M, Dumermuth G, Isler W (1981) Joubert syndrome: clinical and polygraphic observations in a further case. Neuropediatrics 12:181–191

    Article  CAS  PubMed  Google Scholar 

  7. Braddock BA, Farmer JE, Deidrick KM, Iverson JM, Maria BL (2006) Oromotor and communication findings in Joubert syndrome: further evidence of multisystem apraxia. J Child Neurol 21:160–163

    Article  PubMed  Google Scholar 

  8. Khan AO, Oystreck DT, Seidahmed MZ, AlDrees A, Elmalik SA, Alorainy IA, Salih MA (2008) Ophthalmic features of Joubert syndrome. Ophthalmology 115:2286–2289

    Article  PubMed  Google Scholar 

  9. Gregory-Evans CY, Williams M, Halford S, Gregory-Evans K (2004) Ocular coloboma: a reassessment in the age of molecular neuroscience. J Med Genet 41:881–891

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  10. Desmet VJ (1992) Congenital diseases of intrahepatic bile ducts: variations on the theme “ductal plate malformation”. Hepatology 16:1069–1083

    Article  CAS  PubMed  Google Scholar 

  11. Pellegrino JE, Lensch MW, Muenke M, Chance PF (1997) Clinical and molecular analysis in Joubert syndrome. Am J Med Genet 72:59–62

    Article  CAS  PubMed  Google Scholar 

  12. Hodgkins PR, Harris CM, Shawkat FS, Thompson DA, Chong K, Timms C, Russell‐Eggitt I, Taylor DS (2004) Joubert syndrome: long-term follow-up. Dev Med Child Neurol 46:694–699

    Article  PubMed  Google Scholar 

  13. Doherty D (2009) Joubert syndrome: insights into brain development, cilium biology, and complex disease. Semin Pediatr Neurol 16:143–154

    Article  PubMed  PubMed Central  Google Scholar 

  14. Ben-Salem S, Al-Shamsi AM, Gleeson JG, Ali BR, Al-Gazali L (2015) Mutation spectrum of Joubert syndrome and related disorders among Arabs. Hum Genome Var 2:15001

    Article  PubMed  PubMed Central  Google Scholar 

  15. Kumada S, Hayashi M, Arima K, Nakayama H, Sugai K, Sasaki M, Kurata K, Nagata M (2004) Renal disease in Arima syndrome is nephronophthisis as in other Joubert-related Cerebello–oculo–renal syndromes. Am J Med Genet 131:71–76

    Article  PubMed  Google Scholar 

  16. Hildebrandt F, Zhou W (2007) Nephronophthisis-associated ciliopathies. J Am SocNephrol 18:1855–1871

    CAS  Google Scholar 

  17. Simms RJ, Eley L, Sayer JA (2009) Nephronophthisis. Eur J Hum Genet 17:406–416

    Article  CAS  PubMed  Google Scholar 

  18. Zollinger H, Mihatsch M, Edefonti A, Gaboardi F, Imbasciati E, Lennert T (1980) Nephronophthisis (medullary cystic disease of the kidney). A study using electron microscopy, immunofluorescence, and a review of the morphological findings. Helv Paediatr Acta 35:509–530

    CAS  PubMed  Google Scholar 

  19. Parisi MA, Doherty D, Chance PF, Glass IA (2007) Joubert syndrome (and related disorders). Eur J Hum Genet 15:511–521

    Article  CAS  PubMed  Google Scholar 

  20. Coene KL, Roepman R, Doherty D, Afroze B, Kroes HY, Letteboer SJ, Ngu LH, Budny B, van Wijk E, Gorden NT (2009) OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Am J Hum Genet 85:465–481

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  21. Roosing S, Hofree M, Kim S, Scott E, Copeland B, Romani M, Silhavy JL, Rosti RO, Schroth J, Mazza T (2015) Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. eLife 4:e06602. doi:10.7554/eLife.06602

  22. Castori M, Valente E, Donati M, Salvi S, Fazzi E, Procopio E, Galluccio T, Emma F, Dallapiccola B, Bertini E (2005) NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders. J Med Genet 42:e9

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  23. Otto EA, Schermer B, Obara T, O’Toole JF, Hiller KS, Mueller AM, Ruf RG, Hoefele J, Beekmann F, Landau D (2003) Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. Nat Genet 34:413–420

    Article  CAS  PubMed  PubMed Central  Google Scholar 

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Correspondence to Nicholas Ware.

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This article refers to the article that can be found at doi: 10.1007/s00467-016-3465-7.

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Ware, N., Sebire, N.J., Chong, W.K. et al. When is biopsy-proven TIN not simply TIN? Answers. Pediatr Nephrol 32, 977–979 (2017). https://doi.org/10.1007/s00467-016-3478-2

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  • DOI: https://doi.org/10.1007/s00467-016-3478-2

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