Kohlschutter Tonz syndrome

Common Name(s)

Kohlschutter Tonz syndrome, Kohlschutter's syndrome

Kohlschutter-Tonz syndrome is an autosomal recessive disorder characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta affecting both primary and secondary teeth and causing yellow or brown discoloration of the teeth. Although the phenotype is consistent, there is variability. Intellectual disability is related to the severity of seizures, and the disorder can thus be considered an epileptic encephalopathy. Some infants show normal development until seizure onset, whereas others are delayed from birth. The most severely affected individuals have profound mental retardation, never acquire speech, and become bedridden early in life (summary by {12:Schossig et al., 2012} and {8:Mory et al., 2012}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Kohlschutter Tonz syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Kohlschutter Tonz syndrome" returned 3 free, full-text research articles on human participants. First 3 results:

Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity.
 

Author(s): Arianna Tucci, Eleanna Kara, Anna Schossig, Nicole I Wolf, Vincent Plagnol, Katherine Fawcett, Coro Paisán-Ruiz, Matthew Moore, Dena Hernandez, Sebastiano Musumeci, Michael Tennison, Raoul Hennekam, Silvia Palmeri, Alessandro Malandrini, Salmo Raskin, Dian Donnai, Corina Hennig, Andreas Tzschach, Roel Hordijk, Thomas Bast, Katharina Wimmer, Chien-Ning Lo, Simon Shorvon, Heather Mefford, Evan E Eichler, Roger Hall, Ian Hayes, John Hardy, Andrew Singleton, Johannes Zschocke, Henry Houlden

Journal: Hum. Mutat.. 2013 Feb;34(2):296-300.

 

Kohlschütter-Tönz syndrome (KTS) is a rare autosomal recessive disorder characterized by amelogenesis imperfecta, psychomotor delay or regression and seizures starting early in childhood. KTS was established as a distinct clinical entity after the first report by Kohlschütter in ...

Last Updated: 30 Jan 2013

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A nonsense mutation in the human homolog of Drosophila rogdi causes Kohlschutter-Tonz syndrome.
 

Author(s): Adi Mory, Efrat Dagan, Barbara Illi, Philippe Duquesnoy, Shikma Mordechai, Ishai Shahor, Sveva Romani, Nivin Hawash-Moustafa, Hanna Mandel, Enza M Valente, Serge Amselem, Ruth Gershoni-Baruch

Journal: Am. J. Hum. Genet.. 2012 Apr;90(4):708-14.

 

Kohlschutter-Tonz syndrome (KTS) is a rare autosomal-recessive disorder of childhood onset, and it is characterized by global developmental delay, spasticity, epilepsy, and amelogenesis imperfecta. In 12 KTS-affected individuals from a Druze village in northern Israel, homozygosity ...

Last Updated: 9 Apr 2012

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Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome.
 

Author(s): Anna Schossig, Nicole I Wolf, Christine Fischer, Maria Fischer, Gernot Stocker, Stephan Pabinger, Andreas Dander, Bernhard Steiner, Otmar Tönz, Dieter Kotzot, Edda Haberlandt, Albert Amberger, Barbara Burwinkel, Katharina Wimmer, Christine Fauth, Caspar Grond-Ginsbach, Martin J Koch, Annette Deichmann, Christof von Kalle, Claus R Bartram, Alfried Kohlschütter, Zlatko Trajanoski, Johannes Zschocke

Journal: Am. J. Hum. Genet.. 2012 Apr;90(4):701-7.

 

Kohlschütter-Tönz syndrome (KTS) is an autosomal-recessive disease characterized by the combination of epilepsy, psychomotor regression, and amelogenesis imperfecta. The molecular basis has not yet been elucidated. Here, we report that KTS is caused by mutations in ROGDI. Using ...

Last Updated: 9 Apr 2012

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Reviews from the PubMed Database

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The terms "Kohlschutter Tonz syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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