Kohlschütter-Tönz syndrome: Case report with novel feature and detailed review of features associated with ROGDI variants

Lelde Liepina (Coresponding Author), Marija Luize Kalnina, Ieva Micule, Linda Gailite, Dmitrijs Rots, Julija Kalnina, Jurgis Strautmanis, Marta Celmina

Research output: Contribution to journalReview articlepeer-review


Kohlschütter-Tönz syndrome (KTS) is a rare, autosomal recessive syndrome characterized by a triad of epilepsy, amelogenesis imperfecta and severe global developmental delay. It was first described in a Swiss family in 1974 by Alfried Kohlschütter and Otmar Tönz. It is caused by pathogenic variants in the ROGDI gene. To the best of our knowledge, there are currently 43 patients with a confirmed ROGDI gene pathogenic variant reported. Here, we review in detail the clinical manifestations of KTS, provide an overview of all reported genetically confirmed patients, and document an additional case of KTS-a 6-year-old Latvian girl-with a confirmed ROGDI gene pathogenic variant. In contrast to previous reports, we detected idiopathic bilateral nephrocalcinosis in this newly identified KTS patient. Perampanel proved an effective treatment for our patient with prolonged super-refractory status epilepticus. In order to better characterize this rare syndrome and its clinical course, it is important to report any additional symptoms and also the effectiveness of used therapies. Future research should focus on elucidating the mechanisms by which the absence/insufficiency of ROGDI-encoded protein causes the clinical manifestations of KTS. This knowledge could shape possible ways of influencing the disease's natural history with more effective therapies.

Original languageEnglish
Pages (from-to)1263-1279
Number of pages17
JournalAmerican Journal of Medical Genetics, Part A
Issue number4
Publication statusPublished - 2022


  • Kohlschütter–Tönz syndrome
  • amelogenesis imperfecta
  • ectodermal dysplasia syndrome
  • nephrocalcinosis
  • super-refractory status epilepticus

Field of Science*

  • 3.2 Clinical medicine

Publication Type*

  • 1.1. Scientific article indexed in Web of Science and/or Scopus database


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