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Last update 08 May 2025

Kohlschutter Tonz Syndrome

Last update 08 May 2025

Basic Info

Synonyms

Amelocerebrohypohidrotic syndrome, EPILEPSY AND YELLOW TEETH, EPILEPSY, DEMENTIA, AND AMELOGENESIS IMPERFECTA

+ [17]

Introduction

Amelogenesis imperfecta, intellectual disability, and epileptic seizures.

Clinical Trials associated with Kohlschutter Tonz Syndrome

NCT06144957

/ RecruitingNot Applicable

SLC13A5 Deficiency: a Prospective Natural History Study - United States Only

SLC13A5 deficiency (Citrate Transporter Disorder, EIEE 25) is a rare genetic disorder with neurodevelopmental delays and seizure onset in the first few days of life. This natural history study is designed to address the lack of understanding of disease progression. Additionally it will identify clinical and biomarker endpoints for use in future clinical trials.

Start Date01 Dec 2021

Sponsor / Collaborator

The University of Texas Southwestern Medical Center

[+2]

NCT04681781

/ Enrolling by invitationNot Applicable

SLC13A5 Deficiency: a Prospective Natural History Study - Remote Only (International)

SLC13A5 deficiency (Citrate Transporter Disorder, EIEE 25) is a rare genetic disorder with neurodevelopmental delays and seizure onset in the first few days of life. This natural history study is designed to address the lack of understanding of disease progression and genotype-phenotype correlation. Additionally it will help in identifying clinical endpoints for use in future clinical trials.

Start Date01 Mar 2021

Sponsor / Collaborator

Stanford University

100 Clinical Results associated with Kohlschutter Tonz Syndrome

100 Translational Medicine associated with Kohlschutter Tonz Syndrome

0 Patents (Medical) associated with Kohlschutter Tonz Syndrome

Literatures (Medical) associated with Kohlschutter Tonz Syndrome

01 Apr 2025·Journal of Biological Chemistry

The ROGDI protein mutated in Kohlschutter–Tonz syndrome is a novel subunit of the Rabconnectin-3 complex implicated in V-ATPase assembly

Article

Author: Kane, Patricia M ; Winkley, Samuel R

V-ATPases are highly conserved ATP-driven rotary proton pumps found widely among eukaryotes that are composed of two subcomplexes: V₁ and V₀. V-ATPase activity is regulated in part through reversible disassembly, during which V₁ physically separates from V₀ and both subcomplexes become inactive. Reassociation of V₁ to V₀ reactivates the complex for ATP-driven proton pumping and organelle acidification. V-ATPase reassembly in Saccharomyces cerevisiae requires the RAVE complex (Rav1, Rav2, and Skp1), and higher eukaryotes, including humans, utilize the Rabconnectin-3 complex. Mammalian Rabconnectin-3 has two subunits: Rabconnectin-3α and Rabconnectin-3β. Rabconnectin-3α isoforms are homologous to Rav1, but there is no known Rav2 homolog, and the molecular basis of the interaction between the Rabconnectin-3α and β subunits is unknown. We identified ROGDI as a Rav2 homolog and novel Rabconnectin-3 subunit. ROGDI mutations cause Kohlschutter-Tonz syndrome, an epileptic encephalopathy with amelogenesis imperfecta that has parallels to V-ATPase-related disease. ROGDI shares extensive structural homology with yeast Rav2 and can functionally replace Rav2 in yeast. ROGDI binds to the N-terminal domains of both Rabconnectin-3 α and β, similar to Rav2 binding to Rav1. Molecular modeling suggests that ROGDI may bridge the two Rabconnectin-3 subunits. ROGDI coimmunoprecipitates with Rabconnectin-3 subunits from detergent-solubilized lysates and is present with them in immunopurified lysosomes of mammalian cells. In immunofluorescence microscopy, ROGDI partially localizes with Rabconnectin-3α in acidic perinuclear lysosomes. The discovery of ROGDI as a novel Rabconnectin-3 interactor sheds new light on both Kohlschutter-Tonz syndrome and the mechanisms behind mammalian V-ATPase regulation.

01 Jan 2025·Clinical Dysmorphology

Nephrocalcinosis, distal renal tubular acidosis and skeletal abnormality in two siblings with ROGDI-related Kohlschütter-Tönz syndrome

Article

Author: Koneru, Swetha ; Dhareneni, Prashanth Rao ; Nerakh, Gayatri

IntroductionKohlschütter-Tönz (KTS) is a rare autosomal recessive, genetically heterogeneous disorder characterized by a triad of early-onset seizures, global developmental delay or regression, and amelogenesis imperfecta of both temporary and permanent teeth. To date, 66 cases have been reported in the literature, of which 44 with genetic confirmation.Case reportHere we report the observation of sibling pairs in a family from a small village in India who presented with nephrocalcinosis, distal renal tubular acidosis, and skeletal abnormality. Nephrocalcinosis has only been reported once before in an individual affected with KTS.ResultsTrio exome sequencing revealed a novel, homozygous, likely pathogenic variant, c.646-2_649del, in exon 9 of the ROGDI gene (NM_024589.3) in the first child. Sanger sequencing confirmed homozygosity in both children. Both parents are heterozygous carriers of the same variant.ConclusionFurther research needs to be done to identify the exact mechanism by which ROGDI-encoded protein deficiency leads to nephrocalcinosis and distal renal tubular acidosis.

01 Mar 2024·Special Care in Dentistry

Epileptic encephalopathy and amelogenesis imperfecta: What about KohlschüttereTönz syndrome? Case report and literature review

Review

Author: Rhaiem, Miniar ; Chalbi, Manel ; Boussaid, Soumaya ; Nefzaoui, Meriem ; Chemli, Mohamed Ali

AbstractBackgroundKohlschüttereTönz syndrome (KTS), also called amelo‐cerebro‐hypohidrotic syndrome, is a very rare genetic condition, described for the first time by Kohlschutter, which typically manifests as a triad of symptoms: amelogenesis imperfecta, infantile onset epilepsy, and intellectual disability. 47 cases were reported in English language literature since 1974–2021.Case reportA 7‐year‐old girl was referred for dental evaluation. Oral examination revealed yellowish color of all the teeth due to enamel hypoplasia. The radiographic exam revealed a thin layer of enamel with decreased radiopacity of the enamel compared to that of dentin. The diagnosis of amelogenesis Imperfecta was established. In addition to that, the child's parents reported that she had spasticity, epileptic seizures and psychomotor developmental delay. The association of all these features leads us to conclude to KTS.ConclusionIt seems that numerous cases of KTS are still undiagnosed in the world, so this paper highlights the common clinical features of Kohlschütter‐Tönz Syndrome helping to an early diagnosis and more research about this condition.

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Kohlschutter Tonz Syndrome

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