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

AKGÜN DOĞAN Ö., ŞİMŞEK KİPER P. Ö., Taskiran E., Schossig A., ÜTİNE G. E., Zschocke J., ...Daha Fazla

JOURNAL OF CHILD NEUROLOGY, cilt.36, sa.10, ss.816-822, 2021 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 36 Sayı: 10
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1177/08830738211004736
  • Dergi Adı: JOURNAL OF CHILD NEUROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, EBSCO Education Source, EMBASE, MEDLINE, MLA - Modern Language Association Database, Psycinfo
  • Sayfa Sayıları: ss.816-822
  • Anahtar Kelimeler: Kohlsch&#252, tter-T&#246, nz Syndrome, Epilepsy, Amelogenesis Imperfecta, ROGD1, YELLOW TEETH, AMELOGENESIS IMPERFECTA, EPILEPSY, DEMENTIA, GENE, MUTATIONS, SEIZURES, PATIENT
  • Hacettepe Üniversitesi Adresli: Evet

Özet

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.