Kohlschutter-tonz syndrome: Clinical and genetic insights gained from 16 cases deriving from a close-knit village in Northern Israel

Adi Mory, Efrat Dagan, Ishai Shahor, Hanna Mandel, Barbara Illi, Jenny Zolotushko, Alina Kurolap, Emilia Chechik, Enza M. Valente, Serge Amselem, Ruth Gershoni-Baruch

Research output: Contribution to journalArticlepeer-review

Abstract

Background Kohlschutter-Tonz syndrome (KTS; MIM 22675) is a rare autosomal recessive disorder characterized by intellectual impairment, spasticity, epilepsy, and amelogenesis imperfecta. We have recently identified the causative gene and mutation underlying KTS, namely, p.R157X, corresponding to ROGDI c.571C>T, which creates a premature stop codon in ROGDI homolog (Drosophila), a gene of unknown function, in KTS patients of Druze origin. Patients To better delineate the phenotype of KTS, 16 cases (eight female, eight male), from seven families (five kindreds) originating from a Druze village in Northern Israel, all homozygous for the same deleterious mutation, were investigated. Medical records were reviewed, and a detailed medical history was obtained by interview of parents. Results Age at onset between six and 12 months of age and the intensity of convulsions were variably manifested by affected sibs and mirror the progression of mental and motor deterioration. Amelogenesis imperfecta and deficient speech occur in all cases. By late adolescence and early twenties, individuals with KTS are bedridden, fed by a gastrostomy tube, spastic, and practically have no cognitive and language perception. Conclusions KTS, a genetic disease heralded by convulsions, "yellow teeth," and severe mental impairment, allows for a clinical variability as regarding age of onset and severity of seizures that per se predict the speed of mental deterioration. In all cases, however, the morbid course of the disease is ultimately equally devastating by the twenties.

Original languageEnglish
Pages (from-to)421-426
Number of pages6
JournalPediatric Neurology
Volume50
Issue number4
DOIs
Publication statusPublished - 2014

Keywords

  • amelogenesis imperfecta
  • epilepsy
  • intellectual impairment
  • Kohlschutter-Tonz syndrome
  • ROGDI homolog (Drosophila) (FLJ22386)

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology
  • Clinical Neurology
  • Medicine(all)

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