Kohlschutter-Tonz Syndrome With a Novel ROGD1 Variant in 3 Individuals: A Rare Clinical Entity

Akgun-Dogan Ö., Simsek-Kiper P. O., Taskiran E., Schossig A., ÜTİNE G. E., Zschocke J., ...More

JOURNAL OF CHILD NEUROLOGY, vol.36, no.10, pp.816-822, 2021 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 36 Issue: 10
  • Publication Date: 2021
  • Doi Number: 10.1177/08830738211004736
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, EBSCO Education Source, EMBASE, MEDLINE, MLA - Modern Language Association Database, Psycinfo
  • Page Numbers: pp.816-822
  • Keywords: Kohlsch&#252, tter-T&#246, nz Syndrome, Epilepsy, Amelogenesis Imperfecta, ROGD1, YELLOW TEETH, AMELOGENESIS IMPERFECTA, EPILEPSY, DEMENTIA, GENE, MUTATIONS, SEIZURES, PATIENT
  • Acibadem Mehmet Ali Aydinlar University Affiliated: Yes


Kohlschutter-Tonz syndrome (OMIM 226750) is a rare disorder with autosomal recessive inheritance among epileptic encephalopathy syndromes. To date, only 31 Kohlschutter-Tonz syndrome families have been reported in the literature. Early-onset epilepsy, progressive global developmental delay, and amelogenesis imperfecta are the main components of the syndrome. Mutations in ROGDI (MIM 226750) and SLC13A5 (MIM 615905) are responsible for Kohlschutter-Tonz syndrome. Here, we report on the clinical and molecular characteristics of 3 individuals from 2 families, all harboring the same homozygous novel deleterious variant in ROGD1, along with a long-term follow-up and review of the literature. Although the phenotypic features are almost consistent in Kohlschutter-Tonz syndrome, overlooking dental findings and diverse degrees of variability in clinical findings makes diagnosis challenging occasionally. Because there is a limited number of reported patients, identification of new patients and delineation of clinical and molecular findings will increase the awareness of clinicians and enable establishing genotype-phenotype correlations.