A rare neurodegenerative disorder with a novel mutation in rogdi and rett-like phenotype: Kohlschütter-tönz syndrome

Genç Sel Ç., CEYLAN A. C., Yayici Köken Ö., Yüksel D., Oğuz K. K.

Neurology Asia, vol.25, no.3, pp.403-413, 2020 (SCI-Expanded) identifier

  • Publication Type: Article / Article
  • Volume: 25 Issue: 3
  • Publication Date: 2020
  • Journal Name: Neurology Asia
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, EMBASE
  • Page Numbers: pp.403-413
  • Keywords: Amelogenesis imperfecta, Kohlschütter-Tönz syndrome, Neurodevelopmental delay, Novel ROGDI mutation, Refractory epilepsy, Rett-like phenotype
  • Akdeniz University Affiliated: No


Kohlschütter-Tönz syndrome (KTZS) is a rare neurodegenerative disorder that presents with seizures, developmental delay, psychomotor regression, hypoplastic dental enamel morphology characteristic for amelogenesis imperfecta, and dysmorphologies. Genetic analysis has identified loss of function mutations within the coding region of the ROGDI and SLC13A5 genes in KTZS. In this report, we documented the clinical, radiological, electroencephalographic, and genetic results of a 3.5-year-old Turkish girl, born to nonconsanguineous parents, who was the first patient diagnosed with KTZS in Turkey. The patient presented with Rett syndrome-like phenotype, neurodevelopmental delay, refractory seizures, and amelogenesis imperfecta. After obtaining informed consent, chromosomal DNA was extracted from the peripheral blood of our patient and her parents. To investigate the molecular diagnosis of the patient, the clinical exome sequencing was performed. The Sanger sequencing analysis was performed for all of the family members for the validation and segregation of this mutation. Pub Med/Medline, Web of Science, and Google Scholar were also searched to find all of the published data on KTZS. The literature comprises 18 published studies about KTZS. The genetic analysis of our patient revealed a novel homozygous c.201-1G>T mutation in the ROGDI gene. The same mutation was also found to be heterozygous in her mother and father. The mutation caused alternative splicing of the ROGDI translation and resulted in a disruption of the ROGDI protein.