Kohlschütter-Tönz Syndrome With a Novel ROGD1 Variant in 3 Individuals: A Rare Clinical Entity
| Autor: | Özlem Akgün-Doğan, Anna Schossig, Koray Boduroğlu, Johannes Zschocke, Gülen Eda Utine, Ekim Z. Taskiran, Pelin Ozlem Simsek-Kiper |
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| Rok vydání: | 2021 |
| Předmět: |
Male
0301 basic medicine Pediatrics medicine.medical_specialty Amelogenesis Imperfecta Kohlschütter-Tönz syndrome 03 medical and health sciences Epilepsy 0302 clinical medicine medicine Humans Amelogenesis imperfecta Child Autosomal recessive inheritance business.industry Epileptic encephalopathy Membrane Proteins Nuclear Proteins medicine.disease Phenotype 030104 developmental biology Child Preschool Pediatrics Perinatology and Child Health Dementia Female Neurology (clinical) business 030217 neurology & neurosurgery |
| Zdroj: | Journal of Child Neurology. 36:816-822 |
| ISSN: | 1708-8283 0883-0738 |
| DOI: | 10.1177/08830738211004736 |
| Popis: | Kohlschütter-Tönz syndrome (OMIM 226750) is a rare disorder with autosomal recessive inheritance among epileptic encephalopathy syndromes. To date, only 31 Kohlschütter-Tönz 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 Kohlschütter-Tönz 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 Kohlschütter-Tönz 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. |
| Databáze: | OpenAIRE |
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